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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

MFAP3L Gene

protein-coding GIFtS: 44
GCID: GC04M170907

microfibrillar-associated protein 3-like

Search for MFAP3L
in

MalaCards

our new
Human Malady Compendium

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, and/or ¹⁰fRNAdb)
About This Section

Aliases
Microfibrillar-Associated Protein 3-Like¹ ²
NYD-Sp9¹
KIAA0626¹ ³
Testis Development Protein NYD-SP9² ³

External Ids:	HGNC: 29083¹	Entrez Gene: 9848²	Ensembl: ENSG00000198948⁷	UniProtKB: O75121³

Export aliases for MFAP3L gene to outside databases

Previous GC identifers: GC04M171604 GC04M171282 GC04M171144 GC04M166662

(According to Entrez Gene, Tocris Bioscience, Wikipedia's Gene Wiki, PharmGKB,
UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL)
About This Section

(According to GeneLoc and/or HGNC, and/or
Entrez Gene (NCBI build 37),
and/or miRBase,
Genomic Views according to UCSC (hg19) and Ensembl (release 69), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000004.11 NC_018915.1 NT_016354.19

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the MFAP3L gene promoter:
TBP GR Spz1 GR-beta NF-E2 p45 AREB6 Nkx6-1 GR-alpha NF-E2 NF-kappaB1
Other transcription factors

SwitchGear Promoter luciferase reporter plasmids (see all 2): MFAP3L promoter sequence

Search SABiosciences Chromatin IP Primers for MFAP3L

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat MFAP3L

Genomic Location:
Genomic View: UCSC Golden Path with GeneCards custom track

Entrez Gene cytogenetic band: 4q32.3 Ensembl cytogenetic band: 4q33 HGNC cytogenetic band: 4q32

MFAP3L Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
MFAP3L gene location

GeneLoc information about chromosome 4 GeneLoc Exon Structure

GeneLoc location for GC04M170907: view genomic region (about GC identifiers)

Start:	170,907,748 bp from pter	End:	170,954,182 bp from pter
Size:	46,435 bases	Orientation:	minus strand

(According to ¹UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to ²PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE MOPED and PaxDb, RefSeq according to NCBI, PDB rendering according to OCA and/or Proteopedia, Recombinant Proteins from EMD Millipore, R&D Systems, GenScript, Enzo Life Sciences, OriGene, Novus Biologicals, Sino Biological, ProSpec, and/or Uscn,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Uscn, Ontologies according to Gene Ontology Consortium 01 Mar 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, Abcam, and/or Uscn)
About This Section

UniProtKB/Swiss-Prot: MFA3L_HUMAN, O75121 (See protein sequence)

Recommended Name: Microfibrillar-associated protein 3-like precursor

Size: 409 amino acids; 45380 Da

Subcellular location: Cell membrane; Single-pass type I membrane protein (Potential)

Sequence caution: Sequence=BAA31601.2; Type=Erroneous initiation;

Secondary accessions: A8K1X6 D3DP35 Q4W5N7 Q4W5N9 Q6TNA8 Q9BVE1 Q9BXK0

Alternative splicing: 3 isoforms: O75121-1 O75121-2 O75121-3

Explore the universe of human proteins at neXtProt for MFAP3L: NX_O75121

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_O75121

MFAP3L Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins (2 alternative transcripts):

NP_001009554.1 NP_067679.6

ENSEMBL proteins:

ENSP00000377307 ENSP00000354583 ENSP00000422791 ENSP00000423722 ENSP00000423802

ENSP00000377305 ENSP00000422571 ENSP00000425303 ENSP00000426247 ENSP00000423549

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	Uscn Proteins for MFAP3L

Gene Ontology (GO): 2 cellular component terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005886	plasma membrane	IEA	--
GO:0016021	integral to membrane	IEA	--

MFAP3L for ontologies About GeneDecksing

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(According to InterPro, ProtoNet, UniProtKB, and/or BLOCKS, Sets of similar genes according to GeneDecks)
About This Section

MFAP3L for domains About GeneDecksing

4 InterPro domains/families:

IPR003598 Ig_sub2

IPR013098 Ig_I-set

IPR013783 Ig-like_fold

IPR007110 Ig-like_dom

Graphical View of Domain Structure for InterPro Entry O75121

ProtoNet protein and cluster: O75121

2 Blocks protein families:

IPB003598 Immunoglobulin C-2 type

IPB003599 Immunoglobulin subtype

UniProtKB/Swiss-Prot: MFA3L_HUMAN, O75121

Similarity: Contains 1 Ig-like C2-type (immunoglobulin-like) domain

(According to ¹UniProtKB, Genatlas, LifeMap Discovery™, IUBMB, and/or ²DME, Human phenotypes from GenomeRNAi, Animal models from MGI Mar 06 2013, inGenious Targeting Laboratory,
bound targets from SABiosciences, miRNA Gene Targets from miRTarBase, shRNA from OriGene, Sirion Biotech, RNAi from EMD Millipore, siRNAs from OriGene, QIAGEN, microRNA from QIAGEN, Gene Editing from DNA2.0, Sirion Biotech, Clones from EMD Millipore, OriGene, SwitchGear Genomics, GenScript, Sino Biological, DNA2.0, and Vector BioLabs, Cell Lines from GenScript, LifeMap BioReagents, Sirion Biotech, In Situ Hybridization Assays from Advanced Cell Diagnostics, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene.)
About This Section

Animal Models:

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MFAP3L

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In Situ Assay
Products:

Advanced Cell Diagnostics RNAscope RNA in situ hybridization assays for MFAP3L

(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Reactome, Tocris Bioscience, GeneGo (Thomson Reuters), QIAGEN, and/or UniProtKB, Sets of similar genes according to GeneDecks, Interaction Networks according to SABiosciences, and/or STRING, Interactions according to ¹UniProtKB, ²MINT, ³I2D, and/or ⁴STRING, with links to IntAct and Ensembl, Ontologies according to Gene Ontology Consortium 01 Mar 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for MFAP3L

STRING Interaction Network Preview (showing 1 interactants - click image to see more details)

1 Interacting protein for MFAP3L (ENSP00000354583⁴) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
UBC	ENSP00000344818⁴	STRING: ENSP00000344818

About this table

(Chemical Compounds according to UniProtKB, Enzo Life Sciences, EMD Millipore, Tocris Bioscience HMDB, BitterDB, and/or Novoseek, and Drugs according to DrugBank, Enzo Life Sciences, and/or PharmGKB, with drugs/clinical trials/news search links to CenterWatch)
About This Section

Browse Small Molecules at EMD Millipore

Browse drugs & compounds from Enzo Life Sciences

Browse Tocris compounds for MFAP3L
Search CenterWatch for drugs/clinical trials and news about MFAP3L / MFA3L

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 235 Homo sapiens; Mar 10 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
RNAi Products from EMD Millipore,
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Tagged/untagged cDNA clones from OriGene, SwitchGear Genomics, GenScript, DNA2.0, Vector BioLabs, Primers from OriGene, SABiosciences, and/or QIAGEN )
About This Section

REFSEQ mRNAs for MFAP3L gene (2 alternative transcripts):

NM_001009554.2 NM_021647.6

Unigene Cluster for MFAP3L:

Microfibrillar-associated protein 3-like

Hs.593942 [show with all ESTs]

Unigene Representative Sequence: NM_021647

11 Ensembl transcripts including schematic representations, and UCSC links where relevant:

ENST00000393704(uc003isn.4) ENST00000361618(uc003isp.4) ENST00000512698

ENST00000502832 ENST00000507601 ENST00000393702 ENST00000506110 ENST00000504999

ENST00000506764 ENST00000510306 ENST00000514683(uc003isq.3)

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		8/112 QIAGEN miScript miRNA Assays for microRNAs that regulate MFAP3L (see all 112):
		hsa-miR-576-3p hsa-miR-520e hsa-miR-106a hsa-miR-218-1* hsa-miR-134 hsa-miR-219-5p hsa-miR-374a hsa-miR-30d

		Browse SwitchGear 3'UTR luciferase reporter plasmids

Inhib. RNA Products:		Browse for Gene Knock-down Tools from EMD Millipore
		OriGene 29mer shRNA kits in GFP-retroviral vector in human, mouse, rat for MFAP3L (see all 7) OriGene shRNA RFP: MFAP3L OriGene siRNA: MFAP3L
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		Sirion Biotech Custom design and validation of potent shRNA sequences against MFAP3L

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Additional cDNA sequence:

AB014526.1 AF327560.1 AK290041.1 AK308263.1 AY391838.1 BC001279.1 BC066912.1

10 DOTS entries:

DT.75101912 DT.97769230 DT.307324 DT.65287129 DT.307325 DT.95264843 DT.92422702 DT.40131114

DT.95255951 DT.75190585

24/97 AceView cDNA sequences (see all 97):

AI784092 AA293849 AA398341 AI634872 BC001279 AY391838 AI809945 BP369391

AB014526 BI027723 BQ023915 BE468177 AI648390 AI214333 AA897457 AI744744

AA424228 AW300352 BX112039 AL134746 AL079736 BF439144 BU186177 AI672329

GeneLoc Exon Structure

5/9 Alternative Splicing Database (ASD) splice patterns (SP) for MFAP3L (see all 9) About this scheme

ExUns:	1	^	2a	·	2b	·	2c	·	2d	·	2e	^	3a	·	3b	^	4a	·	4b	·	4c	·	4d	·	4e	·	4f	·	4g	^	5a	·	5b	^	6	^	7	^	8a	·	8b	·	8c	·	8d	·	8e
SP1:													-		-						-		-		-		-		-		-		-		-
SP2:			-		-		-		-		-		-
SP3:																																					-
SP4:													-		-														-		-		-		-		-
SP5:													-

ECgene alternative splicing isoforms for MFAP3L

(RNA expression data according to H-InvDB, NONCODE, miRBase, and RNAdb, Expression images according to data from BioGPS, Illumina Human BodyMap, and CGAP SAGE, Sets of similar genes according to GeneDecks, in vivo and in vitro expression data from LifeMap Discovery™, plus additional links to Genevestigator, and/or SOURCE, and/or BioGPS, and/or UniProtKB,
PCR Arrays from SABiosciences, Primers from OriGene, SABiosciences, and/or QIAGEN, In Situ Hybridization Assays from Advanced Cell Diagnostics)
About This Section

MFAP3L expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATCCATCC

About this image

MFAP3L expression in embryonic tissues and stem cells
Expression by the Database of Embryonic development, Stem cell research, and Regenerative medicine About this table

1 LifeMap In Vivo Development Anatomical Compartment/Cell

Tissue

Anatomical Compartment

Cell

Category (developmental path)

Placenta

Chorioallantoic Placenta

Extraembryonic Angioblasts

Endothelium

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

Stem Cell Differentiation: 1 LifeMap Cell

Name

Category

Definitive endoderm-like cells (A scalable, suspensi...)

See MFAP3L Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for MFAP3L

SOURCE GeneReport for Unigene cluster: Hs.593942

UniProtKB/Swiss-Prot: MFA3L_HUMAN, O75121

Tissue specificity: Highly expressed in testis

SABiosciences Custom PCR Arrays for MFAP3L

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In Situ
Assay Products:

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(Orthologs according to ^1,2HomoloGene (²older version, for species not in ¹newer version), ³euGenes, ⁴SGD , ⁵MGI Mar 06 2013, with possible further links to Flybase and/or WormBase, and/or ⁶Ensembl pan taxonomic compara , Gene Trees according to Ensembl and TreeFam)
About This Section

This gene was present in the common ancestor of chordates.

Orthologs for MFAP3L gene from 3/11 species (see all 11) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	MFAP3L¹	microfibrillar-associated protein 3-like	71.4(n) 72.89(a)		428729 XM_426287.3 XP_426287.2
lizard (Anolis carolinensis)	Reptilia	MFAP3L⁶	--	65(a)	1 ↔ 1	GL343216.1(864164-867666)
zebrafish (Danio rerio)	Actinopterygii	Dr.13816²	Transcribed sequence with weak similarity to protein more	75.37(n)		57049691

ENSEMBL Gene Tree for MFAP3L (if available)
TreeFam Gene Tree for MFAP3L (if available)

(Paralogs according to ¹HomoloGene,
²Ensembl, and ³SIMAP, Pseudogenes according to ⁴Pseudogene.org Build 68)
About This Section

Paralogs for MFAP3L gene

MFAP3²

1 SIMAP similar gene for MFAP3L using alignment to 7 protein entries: MFA3L_HUMAN (see all proteins):

MFAP3

MFAP3L for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, UniProtKB, and DNA2.0, Linkage Disequilibrium by HapMap, Structural Variations(CNVs/InDels/Inversions) from the Database of Genomic Variants, Mutations from the Human Gene Mutation Database (HGMD) and the Locus Specific Mutation Databases (LSDB), Blood group antigen gene mutations by BGMUT, Resequencing Primers from QIAGEN, Cancer Mutation PCR Arrays and Assays and Copy Number PCR Arrays from SABiosciences)
About This Section

SNP ID	Valid	Clinical significance	Chr 4 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs75416333^1,2	F	--	170907299(+)	`CTTATG/ACACAC`	2	--	int¹		1		WA	118
rs114528928^1,2	F	--	170907333(+)	`AGGAAG/TTTCAT`	2	--	int¹		1		WA	118
rs79192904^1,2	F	--	170907344(+)	`TTTTGC/TTGTTT`	2	--	int¹		1		WA	118
rs146275927^1,2		--	170907483(+)	`TCCCTA/GAAGCA`	2	--	int¹		0	--	--	--	--
rs76482653^1,2	F	--	170907497(+)	`TCAATA/GTGATG`	2	--	int¹		1		WA	118
rs139362016^1,2		--	170907518(+)	`TATTTA/CTTGAT`	2	--	int¹		0	--	--	--	--
rs192511049^1,2		--	170907547(+)	`CTATAC/TGATTT`	2	--	int¹		0	--	--	--	--
rs184752542^1,2		--	170907684(+)	`GGTTTC/TATACC`	2	--	int¹		0	--	--	--	--
rs75735394^1,2	F	--	170907733(+)	`CAGGTG/AGGACA`	2	--	int¹		1		NA	120
rs12509103^1,2	C,F,H	--	170907795(+)	`AATACA/TGGATG`	2	--	ut3¹		15		NA NS EA	1108

HapMap Linkage Disequilibrium report for MFAP3L (170907748 - 170954182 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV) variations for MFAP3L: --

SABiosciences Cancer Mutation PCR Assays

QIAGEN SeqTarget long-range PCR primers in human, mouse, rat for resequencing MFAP3L

DNA2.0 Custom Variant and Variant Library Synthesis for MFAP3L

(in which this Gene is Involved, According to MalaCards, OMIM, UniProtKB, the University of Copenhagen DISEASES database, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

(in PubMed. Associations of this gene to articles via ¹Entrez Gene, ²UniProtKB/Swiss-Prot, ³HGNC, ⁴GAD, ⁵PharmGKB, ⁶HMDB, ⁷DrugBank, ⁸UniProtKB/TrEMBL, ⁹ Novoseek, and/or ¹⁰fRNAdb)
About This Section

PubMed articles for MFAP3L gene integrated from 9 sources:
(articles sorted by number of sources associating them with MFAP3L)

Utopia: connect your pdf to the dynamic
world of online information

Prediction of the coding sequences of unidentified human genes. X. The complete sequences of 100 new cDNA clones from brain which can code for large proteins in vitro. (PubMed id 9734811)^{1, 2, 3} Ishikawa K.... Ohara O. (1998)
The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC). (PubMed id 15489334)^{1, 2} Gerhard D.S....Malek J. (2004)
Systematic and quantitative assessment of the ubiquiti n-modified proteome. (PubMed id 21906983)¹ Kim W....Gygi S.P. (2011)
A proteome-wide, quantitative survey of in vivo ubiqui tylation sites reveals widespread regulatory roles. (PubMed id 21890473)¹ Wagner S.A....Choudhary C. (2011)
Generation and annotation of the DNA sequences of human chromosomes 2 and 4. (PubMed id 15815621)² Hillier L.W....Wilson R.K. (2005)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
Generation and initial analysis of more than 15,000 full-length human and mouse cDNA sequences. (PubMed id 12477932)¹ Strausberg R.L....Marra M.A. (2002)
Hepatitis C virus core protein interacts with 14-3-3 protein and activates the kinase Raf-1. (PubMed id )² Aoki H.... Hino O. (2000)

(in PubMed, OMIM, and NCBI Bookshelf)
About This Section

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
	(Note: In FireFox, select the above section and copy using Ctrl-C)

(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
About This Section

Entrez Gene: 9848	HGNC: 29083	AceView: MFAP3L	Ensembl:ENSG00000198948	euGenes: HUgn9848
ECgene: MFAP3L	H-InvDB: MFAP3L

(According to HUGE)
About This Section

HUGE: KIAA0626

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
About This Section

Name	Description
PharmGKB entry for MFAP3L	Pharmacogenomics, SNPs, Pathways

Intellectual Property for MFAP3L gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for MFAP3L gene:
Search GeneIP for patents involving MFAP3L

GeneCards and IP:
Japan Patent Office Licenses GeneCards European Patent Office Licenses GeneCards Improving the IP Search

(Antibodies, recombinant proteins, and assays from EMD Millipore, R&D Systems, OriGene, QIAGEN, GenScript, Cell Signaling Technology, SABiosciences, Novus Biologicals, Sino Biological, Enzo Life Sciences, Abcam, ProSpec, Uscn, Thermo Fisher Scientific, Gene Editing from DNA2.0 and Sirion Biotech, Clones from EMD Millipore, OriGene, GenScript, Sino Biological, DNA2.0, SwitchGear Genomics, Vector BioLabs, Cell lines from GenScript, LifeMap BioReagents, and Sirion Biotech, PCR Arrays from SABiosciences, Drugs and/or compounds from EMD Millipore, Tocris Bioscience, and/or Enzo Life Sciences, In Situ Hybridization Assays from
Advanced Cell Diagnostics, Animal models from inGenious Targeting Laboratory)
About This Section


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	QIAGEN Custom miScript Target Protector blocks miRNA-binding site of in human, mouse, rat MFAP3L
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	GenScript Custom Purified and Recombinant Proteins Services for MFAP3L		GenScript cDNA clones with any tag delivered in your preferred vector for MFAP3L
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Vector BioLabs ready-to-use adenovirus/AAV for human, mouse, rat MFAP3L

inGenious Targeting Laboratory - Customizable classic, inducible, and humanized mouse model solutions for MFAP3L

Sirion Biotech Customized:

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GeneCards Homepage - Last full update: 19 Mar 2013 - Incrementals: 21 Mar 2013 , 15 Apr 2013 , 26 Apr 2013 , 14 May 2013

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Category			VWF (GIFTS: 73) von Willebrand factor
GIFtS Group

The GeneCards human gene database gene index: 1 3 5 6 A B C D E F G H I J K L M N O P Q R S T U V W X Y Z

The GeneCards Human Gene Database

Developed at the Crown Human Genome Center, Department of Molecular Genetics, the Weizmann Institute of Science

Hot genes Disease genes MFAP3L gene at Home site.

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MFAP3L Gene

microfibrillar-associated protein 3-like

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Export list of displayed genes

MFAP3L Gene

microfibrillar-associated protein 3-like

Aliasesfor MFAP3L gene

Summariesfor MFAP3L gene

Genomic Viewsfor MFAP3L gene

Proteinsfor MFAP3L gene

Protein Domains /Familiesfor MFAP3L gene

Functionfor MFAP3L gene

Pathways & Interactionsfor MFAP3L gene

Drugs & Compoundsfor MFAP3L gene

Transcriptsfor MFAP3L gene

Expression for MFAP3L gene

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Genome Databases showing MFAP3L gene

Other Databases showing MFAP3L gene

Specialized Databases showing MFAP3L gene

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Aliases
for MFAP3L gene

Summaries
for MFAP3L gene

Genomic Views
for MFAP3L gene

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for MFAP3L gene

Protein Domains /
Families
for MFAP3L gene

Function
for MFAP3L gene

Pathways & Interactions
for MFAP3L gene

Drugs & Compounds
for MFAP3L gene

Transcripts
for MFAP3L gene

Expression
for MFAP3L gene

Orthologs
for MFAP3L gene

Paralogs
for MFAP3L gene

Genomic Variants
for MFAP3L gene

Disorders / Diseases
for MFAP3L gene

Publications
for MFAP3L gene

Intellectual Property
for MFAP3L gene

Products
for MFAP3L gene