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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

KIAA1279 Gene

protein-coding GIFtS: 53
GCID: GC10P070748

KIAA1279

Explore 13 diseases affiliated with
KIAA1279 via

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
KIAA1279¹ ²
TTC20¹ ²
KBP² ³
DKFZP586B0923¹
KIF1-Binding Protein²

External Ids:	HGNC: 23419¹	Entrez Gene: 26128²	Ensembl: ENSG00000198954⁷	OMIM: 609367⁵	UniProtKB: Q96EK5³

Export aliases for KIAA1279 gene to outside databases

Previous GC identifers: GC10P070093 GC10P070418 GC10P064750

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

Entrez Gene summary for KIAA1279:

This gene encodes a kinesin family member 1 binding protein that is characterized by two tetratrico peptide repeats.

The encoded protein localizes to the mitochondria and may be involved in regulating transport of the mitochondria.

Mutations in this gene are associated with Goldberg-Shprintzen megacolon syndrome. (provided by RefSeq, Mar 2010)

UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5

Function: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and

central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity

Gene Wiki entry for KIAA1279

(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_000010.10 NC_018921.1 NT_030059.13

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the KIAA1279 gene promoter:
ER-alpha C/EBPbeta AML1a p53 Gfi-1 AREB6 HEN1 FOXJ2 (long isoform) SEF-1 (1) FOXJ2
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: KIAA1279 promoter sequence

Search SABiosciences Chromatin IP Primers for KIAA1279

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat KIAA1279

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

Entrez Gene cytogenetic band: 10q22.1 Ensembl cytogenetic band: 10q22.1 HGNC cytogenetic band: 10q22.1

KIAA1279 Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
KIAA1279 gene location

GeneLoc information about chromosome 10 GeneLoc Exon Structure

GeneLoc location for GC10P070748: view genomic region (about GC identifiers)

Start:	70,748,477 bp from pter	End:	70,776,739 bp from pter
Size:	28,263 bases	Orientation:	plus 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: KBP_HUMAN, Q96EK5 (See protein sequence)

Recommended Name: KIF1-binding protein

Size: 621 amino acids; 71814 Da

Subunit: Interacts with KIF1B

Subcellular location: Mitochondrion

Sequence caution: Sequence=BAA86593.1; Type=Erroneous initiation;

Secondary accessions: A8K5M8 Q9BR89 Q9ULE1 Q9Y428

Explore the universe of human proteins at neXtProt for KIAA1279: NX_Q96EK5

Post-translational modifications:

View modification sites using PhosphoSitePlus²

View neXtProt modification sites for NX_Q96EK5

KIAA1279 Protein expression data from MOPED and PaxDb: About this image

REFSEQ proteins: NP_056449.1

ENSEMBL proteins:

ENSP00000354848

Human Recombinant Protein Products:

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	Uscn Proteins for KIAA1279

Gene Ontology (GO): 1 cellular component term (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005739	mitochondrion	IDA	16225668

KIAA1279 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

KIAA1279 for domains About GeneDecksing

2 InterPro domains/families:

IPR011990 TPR-like_helical

IPR022083 KBP

Graphical View of Domain Structure for InterPro Entry Q96EK5

ProtoNet protein and cluster: Q96EK5

UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5

Similarity: Belongs to the KIF1-binding protein family

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

Function Summary:

UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5

Function: Required for organization of axonal microtubules, and axonal outgrowth and maintenance during peripheral and

central nervous system development. Regulates mitochondrial transport by modulating KIF1B motor activity

miRNA Products:		OriGene 3'-UTR Clone: KIAA1279 Browse MicroRNA Expression Plasmids
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		hsa-miR-3606 hsa-miR-92a hsa-miR-363 hsa-miR-367 hsa-miR-25 hsa-miR-32 hsa-miR-92b
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In Situ Assay
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Gene Ontology (GO): 2 molecular function terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0005515	protein binding	IPI	16189514
GO:0019894	kinesin binding	IPI	16225668

KIAA1279 for ontologies About GeneDecksing

(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:

SABiosciences Gene Network Central^TM Interacting Genes and Proteins Network for KIAA1279

STRING Interaction Network Preview (showing 5 interactants - click image to see 18)

5/587 Interacting proteins for KIAA1279 (Q96EK5^{1, 2, 3} ENSP00000354848⁴) via UniProtKB, MINT, STRING, and/or I2D (see all 587)

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
RGR	P47804¹^,²^,³, ENSP00000352427⁴	EBI-744150,EBI-745818 MINT-66728 I2D: score=6 STRING: ENSP00000352427
ZNF638	Q14966²^,³, ENSP00000264447⁴	MINT-7945693 MINT-66586 I2D: score=5 STRING: ENSP00000264447
ZNF670	Q9BS34²^,³, ENSP00000355459⁴	MINT-66643 I2D: score=5 STRING: ENSP00000355459
PLEKHF1	Q96S99²^,³	MINT-67493 I2D: score=5
ATXN2	Q99700²^,³, ENSP00000366843⁴	MINT-2871851 MINT-2871832 I2D: score=3 STRING: ENSP00000366843

About this table

Gene Ontology (GO): 3 biological process terms (GO ID links to tree view): About this table

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0006839	mitochondrial transport	IMP	16225668
GO:0007399	nervous system development	IEA	--
GO:0030154	cell differentiation	IEA	--

KIAA1279 for ontologies About GeneDecksing

(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 KIAA1279
Search CenterWatch for drugs/clinical trials and news about KIAA1279 / KBP

(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,
siRNAs from OriGene, QIAGEN, shRNA from OriGene, microRNA from QIAGEN,
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 KIAA1279 gene:

NM_015634.3

Unigene Cluster for KIAA1279:

KIAA1279

Hs.279580 [show with all ESTs]

Unigene Representative Sequence: NM_015634

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

ENST00000361983(uc001joy.3) ENST00000481912

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Additional cDNA sequence:

AB033105.1 AK291343.1 AL050190.1 BC006427.1 BC012180.1

7 DOTS entries:

DT.217288 DT.121268203 DT.91765526 DT.95231700 DT.121268199 DT.75115708 DT.91765525

24/196 AceView cDNA sequences (see all 196):

BM836416 AI306690 CB266812 AA947477 CR593211 BQ006847 AA670043 NM_015634

AA324124 BM832522 BM978386 BM772293 AA309057 BI963803 AW015016 BM976067

AI022469 BQ430676 CB121037 AB033105 BM354108 BI963898 AA262807 BE221180

GeneLoc Exon Structure

3 Alternative Splicing Database (ASD) splice patterns (SP) for KIAA1279 About this scheme

ExUns:	1a	·	1b	^	2	^	3a	·	3b	^	4	^	5a	·	5b	^	6	^	7	^	8
SP1:					-										-
SP2:					-
SP3:

ECgene alternative splicing isoforms for KIAA1279

(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

KIAA1279 expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS
CGAP TAG: TGATTTGTAT

About this image

KIAA1279 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)

Testis

Seminiferous Tubules

Spermatid

Germ Cells, Male Gametocytes

Expression:

Positive

Negative

Selective marker

Experimental details:

Curated

Microarrays

In-situ hybridization

See KIAA1279 Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for KIAA1279

SOURCE GeneReport for Unigene cluster: Hs.279580

UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5

Tissue specificity: Highly expressed in heart, brain, ovary, testis, spinal cord and all specific brain regions

examined. Moderate expressed at intermediate level in all other adult tissues examined, as well as in fetal liver and

brain. Not expressed in blood leukocytes

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In Situ
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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 animals.

Orthologs for KIAA1279 gene from 6/24 species (see all 24) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
mouse (Mus musculus)	Mammalia	2510003E04Rik^{1 , 5}	RIKEN cDNA 2510003E04 gene^{1, 5}	85.52(n)¹ 92.54(a)¹		10 (32.43 cM)⁵ 72320¹ NM_028197.2¹ NP_082473.2¹ 62538626⁵
chicken (Gallus gallus)	Aves	KIAA1279¹	KIAA1279	73.01(n) 70.5(a)		423694 NM_001007944.1 NP_001007945.1
lizard (Anolis carolinensis)	Reptilia	KIAA1279⁶	--	66(a)	1 ↔ 1	GL343215.1(1931421-1944586)
African clawed frog (Xenopus laevis)	Amphibia	Xl.16863²	Xenopus laevis transcribed sequence with weak similarity more	72.8(n)		BU915488.1
zebrafish (Danio rerio)	Actinopterygii	kbp¹	kif1-binding protein	59.27(n) 55.27(a)		100002194 NM_001013462.3 NP_001013480.3
fruit fly (Drosophila melanogaster)	Insecta	CG14043¹	CG14043	46.66(n) 32.11(a)		33714 NM_135042.2 NP_608886.1

ENSEMBL Gene Tree for KIAA1279 (if available)
TreeFam Gene Tree for KIAA1279 (if available)

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

(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 10 pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs121434515^1,2	C	pathogenic	64750661(+)	`AGCCCG/TAGGGG`	2	E *	stg¹		0	--	--	--	--
rs121434514^1,2	C	pathogenic	64750679(+)	`CCCAGC/TGAGCG`	2	R *	stg¹		0	--	--	--	--
rs11818804^1,2	C,H,	--	64748578(+)	`accacA/Gccagt`	1	--	us2k¹		0	--	--	--	--
rs34262113^1,2	C	--	64748621(+)	`GTCTC-/AAAAAA`	1	--	us2k¹		1		NA	2
rs76210299^1,2	C,	--	64748875(+)	`NNNNTT/GAGACT`	1	--	us2k¹		4		CSA WA NA EA	360
rs7083093^1,2	C,H	--	64748968(+)	`CTGGAG/AAGCCA`	1	--	us2k¹		4		NS EA	398
rs7083228^1,2	C,H	--	64749036(+)	`gatgaG/Aatctc`	1	--	us2k¹		6		NS EA NA	418
rs12416390^1,2	C,F,H,	--	64749176(+)	`CTGAAG/ACTTAA`	1	--	us2k¹ tfbs³		8		NS EA NA	526
rs41314994^1,2		--	64750263(+)	`CCGAGC/AGTATT`	1	--	us2k¹		1		NA	120
rs11554780^1,2	C	--	64750633(+)	`GCCCTG/AGGGCT`	2	/L	syn¹ ese³		1		NA	2

HapMap Linkage Disequilibrium report for KIAA1279 (70748477 - 70776739 bp)
Structural Variations (Copy Number Variations, Insertions/Deletions, Inversions)
Database of Genomic Variants (DGV): 1 variation for KIAA1279
1 CNV: 48614
Human Gene Mutation Database (HGMD): KIAA1279

SABiosciences Cancer Mutation PCR Assays

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(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

KIAA1279 for disorders           About GeneDecksing

OMIM gene information: 609367
OMIM disorders: 609460
UniProtKB/Swiss-Prot: KBP_HUMAN, Q96EK5

Defects in KIAA1279 are the cause of Goldberg-Shprintzen megacolon syndrome (GOSHS) [MIM:609460]. GOSHS is

characterized by microcephaly, mental retardation and facial dysmorphism, as well as phenotypes related to

Hirschsprung disease syndrome

13 diseases for KIAA1279: About MalaCards

goldberg-shprintzen megacolon syndrome megacolon periventricular nodular heterotopia pseudobulbar palsy

dendritic cell sarcoma pasteurellosis velocardiofacial syndrome heterotopia

hirschsprung's disease microcephaly alzheimer's disease ataxia

sarcoma

1 disease from the University of Copenhagen DISEASES database for KIAA1279:

Pseudobulbar palsy

Human Genome Epidemiology (HuGE) Navigator: KIAA1279 (1 document)

Export disorders for KIAA1279 gene to outside databases

(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 KIAA1279 gene, integrated from 9 sources (see all 20):
(articles sorted by number of sources associating them with KIAA1279)

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

The novel protein KBP regulates mitochondria localization by interaction with a kinesin-like protein. (PubMed id 16225668)^{1, 2} Wozniak M.J.... Lammers R. (2005)
Homozygous nonsense mutations in KIAA1279 are associated with malformations of the central and enteric nervous systems. (PubMed id 15883926)^{1, 2} Brooks A.S.... Hofstra R.M.W. (2005)
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)
The DNA sequence and comparative analysis of human chromosome 10. (PubMed id 15164054)^{1, 2} Deloukas P.... Rogers J. (2004)
Prediction of the coding sequences of unidentified human genes. XV. The complete sequences of 100 new cDNA clones from brain which code for large proteins in vitro. (PubMed id 10574462)^{1, 2} Nagase T.... Ohara O. (1999)
The proteomic analysis of endogenous FAT10 substrates identifies p62/SQSTM1 as a substrate of FAT10ylation. (PubMed id 22797925)¹ Aichem A....Groettrup M. (2012)
A high-throughput approach for measuring temporal chan ges in the interactome. (PubMed id 22863883)¹ Kristensen A.R....Foster L.J. (2012)
Initial characterization of the human central proteome. (PubMed id 21269460)² Burkard T.R.... Colinge J. (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)
Mass spectrometric analysis of lysine ubiquitylation r eveals promiscuity at site level. (PubMed id 21139048)¹ Danielsen J.M....Nielsen M.L. (2011)

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

		AND	OR
Aliases
Free Text

Query String		PubMed OMIM NCBI Bookshelf
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(According to Entrez Gene, HGNC, AceView, euGenes, Ensembl, miRBase, ECgene, Kegg, and/or H-InvDB)
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Entrez Gene: 26128	HGNC: 23419	AceView: KIAA1279	Ensembl:ENSG00000198954	euGenes: HUgn26128
ECgene: KIAA1279	H-InvDB: KIAA1279

(According to HUGE)
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HUGE: KIAA1279

(According to PharmGKB, ATLAS, HORDE, IMGT, LEIDEN, UniProtKB/Swiss-Prot, and/or UniProtKB/TrEMBL,
Wikipedia and/or GeneReviews via UniProtKB/Swiss-Prot)
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Name	Description
PharmGKB entry for KIAA1279	Pharmacogenomics, SNPs, Pathways

Intellectual Property for KIAA1279 gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

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Patent Information for KIAA1279 gene:
Search GeneIP for patents involving KIAA1279

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

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In Situ Hybridization Assays from
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