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Category Symbol Source: HGNC EntrezGene Ensembl GeneCards RNA genes CroW21

GIFtS
-

RBMY1F Gene

protein-coding GIFtS: 41
GCID: GC0YM024314

RNA Binding Motif Protein, Y-Linked, Family 1, Member F

3 related diseases
at

MalaCards

(According to ¹HGNC, ²Entrez Gene,
³UniProtKB/Swiss-Prot, ⁴UniProtKB/TrEMBL, ⁵OMIM, ⁶GeneLoc, ⁷Ensembl, ⁸DME, ⁹miRBase, ¹⁰fRNAdb, ¹²H-InvDB, ¹³NCBI, ¹⁴NONCODE, and/or ¹⁵RNAdb)
About This Section

Aliases
RNA Binding Motif Protein, Y-Linked, Family 1, Member F¹ ²
Y Chromosome RNA Recognition Motif 2² ³
YRRM2² ³
RNA-Binding Motif Protein, Y Chromosome, Family 1 Member F/J²

External Ids:	HGNC: 23974¹	Entrez Gene: 159163²	Ensembl: ENSG00000169800⁷	UniProtKB: Q15415³

Export aliases for RBMY1F gene to outside databases

Previous GC identifers: GC0YP022795 GC0YM022724

(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 RBMY1F Gene:

This gene encodes a protein containing an RNA-binding motif in the N-terminus and four SRGY (serine, arginine, glycine,

tyrosine) boxes in the C-terminus. Multiple copies of this gene are found in the AZFb azoospermia factor region of

chromosome Y and the encoded protein is thought to be involved in spermatogenesis. Most copies of this locus are

pseudogenes, although six highly similar copies have full-length ORFs and are considered functional. Four functional

copies of this gene are found within inverted repeat IR2; two functional copies of this gene are found in palindrome

P3, along with two copies of PTPN13-like, Y-linked. (provided by RefSeq, Jul 2008)

GeneCards Summary for RBMY1F Gene:

RBMY1F (RNA binding motif protein, Y-linked, family 1, member F) is a protein-coding gene. Diseases associated with RBMY1F include azoospermia, and gonadoblastoma. An important paralog of this gene is RBMY1J.

UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415

Function: RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by

participating in pre-mRNA splicing in the testis

(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 73), Regulatory elements and Epigenetics data according to QIAGEN, SABiosciences, and/or SwitchGear Genomics)
About This Section

RefSeq DNA sequence:

NC_000024.9 NT_011903.12

Regulatory elements:

SABiosciences Regulatory transcription factor binding sites in the RBMY1F gene promoter:
POU2F1 POU2F1a
Other transcription factors

SwitchGear Promoter luciferase reporter plasmid: RBMY1F promoter sequence

Search SABiosciences Chromatin IP Primers for RBMY1F

Epigenetics:

QIAGEN PyroMark CpG Assay predesigned Pyrosequencing DNA Methylation assays in human, mouse, rat RBMY1F

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

Entrez Gene cytogenetic band: Yq11.223 Ensembl cytogenetic band: Yq11.223 HGNC cytogenetic band: Yq11.223

RBMY1F Gene in genomic location: bands according to Ensembl, locations according to (and/or Entrez Gene and/or Ensembl if different)
RBMY1F gene location

GeneLoc information about chromosome Y GeneLoc Exon Structure

GeneLoc location for GC0YM024314: view genomic region (about GC identifiers)

Start:	24,314,689 bp from pter	End:	24,329,129 bp from pter
Size:	14,441 bases	Orientation:	minus strand

(According to UniProtKB, HORDE, neXtProt, Ensembl, and/or Reactome, Modification sites according to PhosphoSitePlus, Specific Peptides from DME, Protein expression images according to data from SPIRE ¹MOPED, ²PaxDb, and ³MAXQB 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 Cloud-Clone Corp.,
Biochemical Assays by EMD Millipore, R&D Systems, OriGene, GenScript, Cell Signaling Technology, Enzo Life Sciences, and/or Cloud-Clone Corp., Ontologies according to Gene Ontology Consortium 01 Oct 2013 and Entrez Gene, Antibodies by EMD Millipore, R&D Systems, GenScript, Cell Signaling Technology, OriGene, Novus Biologicals, Thermo Fisher Scientific, LSBio, Abcam, and/or Cloud-Clone Corp.)
About This Section

UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415 (See protein sequence)

Recommended Name: RNA-binding motif protein, Y chromosome, family 1 member F/J

Size: 496 amino acids; 55728 Da

Subunit: Interacts with splicing factor proteins SFRS3/SRP20, TRA2B/SFRS10, KHDRBS1/SAM68 and KHDRBS3

Subcellular location: Nucleus

Developmental stage: Expressed in all of the transcriptionally active stages of germ cell development from

spermatogonia through spermatocytes to round spermatids

Miscellaneous: The RBMY1 proteins are encoded by repeated regions of the Y chromosome, mostly within the AZFb region.

The exact number of functional copies is unclear and may vary between individuals, and some of them may represent

pseudogenes. The proteins are very similar, which makes the characterization of each protein difficult. Thus, most

experiments do not discriminate between the different members. One can therefore suppose that reported interactions

with a RBMY1 protein involve all the proteins

Secondary accessions: B2R916

Alternative splicing: 2 isoforms: Q15415-1 Q15415-2

Explore the universe of human proteins at neXtProt for RBMY1F: NX_Q15415

Explore proteomics data for RBMY1F at MOPED

Post-translational modifications:

View modification sites using PhosphoSitePlus

View neXtProt modification sites for NX_Q15415

RBMY1F Protein expression data from MOPED¹, PaxDb² and MAXQB³ : About this image

REFSEQ proteins: NP_689798.1

ENSEMBL proteins:

ENSP00000307155 ENSP00000406005

Human Recombinant Protein Products for RBMY1F:

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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:0005575	cellular_component	--	--
GO:0005634	nucleus	--	--

RBMY1F for ontologies About GeneDecksing

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

HGNC Gene Families:

RBM: RNA binding motif (RRM) containing

3 InterPro protein domains:

IPR012604 RBM1CTR

IPR012677 Nucleotide-bd_a/b_plait

IPR000504 RRM_dom

Graphical View of Domain Structure for InterPro Entry Q15415

ProtoNet protein and cluster: Q15415

2 Blocks protein domains:

IPB000504 RNA-binding region RNP-1 (RNA recognition motif)

IPB012604 RBM1CTR

UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415

Similarity: Contains 1 RRM (RNA recognition motif) domain

RBMY1F for domains About GeneDecksing

(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 Oct 2013 via Entrez Gene.)
About This Section

Molecular Function:

UniProtKB/Swiss-Prot Summary: RBY1F_HUMAN, Q15415

Function: RNA-binding protein which may be involved in spermatogenesis. Required for sperm development, possibly by

participating in pre-mRNA splicing in the testis

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

GO ID	Qualified GO term	Evidence	PubMed IDs
GO:0000166	nucleotide binding	--	--
GO:0003676	nucleic acid binding	--	--
GO:0003723	RNA binding	--	--

RBMY1F for ontologies About GeneDecksing

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In Situ Assay
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(Pathways according to EMD Millipore, R&D Systems, Cell Signaling Technology, KEGG, PharmGKB, BioSystems, Sino Biological, 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 Oct 2013 via Entrez Gene).
About This Section

Interactions:

Search SABiosciences Gene Network Central^TM Interacting Genes and Proteins Networks for RBMY1F

1 Interacting protein for RBMY1F (Q15415³) via UniProtKB, MINT, STRING, and/or I2D

Interactant		Interaction Details
GeneCard	External ID(s)	Interaction Details
HNRNPK	P61978³	I2D: score=1

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:0006397	mRNA processing	--	--
GO:0007283	spermatogenesis	--	--
GO:0008380	RNA splicing	--	--

RBMY1F 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, IUPHAR, 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 RBMY1F (RBY1F)

Search CenterWatch for drugs/clinical trials and news about RBMY1F / RBY1F

(Secondary structures according to fRNAdb,
GenBank/EMBL/DDBJ Accessions according to
Unigene (Build 236 Homo sapiens; Apr 25 2013) or GenBank,
RefSeq according to Entrez Gene,
DOTS (version 10), and/or AceView, transcript ids from Ensembl with links to UCSC,
Conferences by KenesGroup, exon structure from GeneLoc, alternative splicing isoforms according to ASD and/or ECgene,
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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 RBMY1F gene:

NM_152585.1

Unigene Cluster for RBMY1F:

RNA binding motif protein, Y-linked, family 1, member F

Hs.567746 [show with all ESTs]

Unigene Representative Sequence: NM_152585

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

ENST00000303766(uc010nxh.3 uc004fva.3 uc022coi.1) ENST00000481858

ENST00000454978(uc022coh.1)

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Additional mRNA sequence:

AK313597.1 BC030018.2 BC152392.1 X76060.1

5 DOTS entries:

DT.207550 DT.120651216 DT.120654377 DT.120654921 DT.97826649

2 AceView cDNA sequences:

BC026077 BG718416

GeneLoc Exon Structure

(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

RBMY1F expression in normal human tissues (normalized intensities)
See probesets specificity/sensitivity at GeneAnnot
About this imageBioGPS <intensity>^2/3
CGAP TAG: --

About this image

See RBMY1F Protein Expression from SPIRE MOPED and PaxDB
Genevestigator expression for RBMY1F

SOURCE GeneReport for Unigene cluster: Hs.567746

UniProtKB/Swiss-Prot: RBY1F_HUMAN, Q15415

Tissue specificity: Testis-specific

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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 RBMY1F gene from 4/10 species (see all 10) About this table

Organism	Taxonomic classification	Gene	Description	Human Similarity	Orthology Type	Details
chicken (Gallus gallus)	Aves	RBMX⁶	heterogeneous nuclear ribonucleoprotein G	59(a)	1 → many	4(4390057-4400409)
zebrafish (Danio rerio)	Actinopterygii	rbmx⁶	RNA binding motif protein, X-linked	50(a)	1 → many	14(32725471-32732600)
fruit fly (Drosophila melanogaster)	Insecta	tra2⁶	transformer 2	12(a)	1 → many	2R(10489509-10491857)
worm (Caenorhabditis elegans)	Secernentea	rsp-8⁶	Protein RSP-8, isoform a	11(a)	1 → many	III(11826215-11831475)

Species with no ortholog for RBMY1F

ENSEMBL Gene Tree for RBMY1F (if available)
TreeFam Gene Tree for RBMY1F (if available)

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

Paralogs for RBMY1F gene

RBMY1J¹ ² RBMY1A1¹ ² RBMY1B¹ ² RBMY1D¹ ² RBMY1E¹ ² TRA2B² RBMXL2² RBMXL3²

RBMXL1² CIRBP² RBM3² RBMX² TRA2A²

13 SIMAP similar genes for RBMY1F using alignment to 1 protein entry: RBY1F_HUMAN:

RBMY1B RBMY1A1 RBMY1C RBM RBMY1D RBMY1E

RBMY1J RBMX CIRBP RBMXL2 RBM38 RBM3

RBMXL1

RBMY1F for paralogs About GeneDecksing

(SNPs/Variants according to the ¹NCBI SNP Database, ²Ensembl, ³PupaSUITE, ⁴UniProtKB, 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 Y pos	Sequence	#	AA Chg	Type	More	#	Allele freq	Pop	Total sample	More
Genomic Data					Transcription Related Data				Allele Frequencies
				--	--	--		--	--
rs376131297^1,2	C	--	24326955(+)	`AAAAT-/ACACACA`	1	--	int¹		0	--	--	--	--
rs370822321^1,2	--	--	24328613(+)	`CGACAC/TGTGCT`	1	--	int¹		0	--	--	--	--
rs368726541^1,2	--	--	24328649(+)	`CAGTGG/TTTAAG`	1	--	int¹		0	--	--	--	--
rs374664415^1,2	--	--	24328622(+)	`CTAACC/TAAAAG`	1	--	int¹		0	--	--	--	--

HapMap Linkage Disequilibrium report for RBMY1F (24314689 - 24329129 bp)

Structural Variations
Database of Genomic Variants (DGV) 10/11 variations for RBMY1F (see all 11): About this table

Variant ID	Type	Subtype	PubMed ID
nsv515226	CNV	Loss	21397061
nsv471612	CNV	Loss	15918152
nsv10029	CNV	Gain	18304495
nsv10030	CNV	Gain	18304495
nsv10031	CNV	Gain	18304495
essv11423	CNV	CNV	17122850
essv15983	CNV	CNV	17122850
nsv442821	CNV	CNV	18776908
nsv442822	CNV	CNV	18776908
nsv515227	CNV	Complex	21397061

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, Conferences by KenesGroup, Genatlas, GeneTests, GAD, HuGE Navigator, and/or TGDB.)
About This Section

RBMY1F for disorders About GeneDecksing

3 diseases for RBMY1F: About MalaCards

azoospermia gonadoblastoma turner syndrome

2 diseases from the University of Copenhagen DISEASES database for RBMY1F:

Gonadoblastoma Turner syndrome

Export disorders for RBMY1F 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 RBMY1F gene integrated from 9 sources:
(articles sorted by number of sources associating them with RBMY1F)

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

The male-specific region of the human Y chromosome is a mosaic of discrete sequence classes. (PubMed id 12815422)^{1, 2, 3} Skaletsky H.... Page D.C. (2003)
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)
A Y chromosome gene family with RNA-binding protein homology: candidates for the azoospermia factor AZF controlling human spermatogenesis. (PubMed id 8269511)^{1, 2} Ma K.... Jobling M. (1993)
Complete sequencing and characterization of 21,243 full-length human cDNAs. (PubMed id 14702039)² Ota T.... Sugano S. (2004)
RBMY, a male germ cell-specific RNA-binding protein, activated in human liver cancers and transforms rodent fibroblasts. (PubMed id 15184870)¹ Tsuei D.J....Chang M.H. (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)
RBMY, a probable human spermatogenesis factor, and other hnRNP G proteins interact with Tra2beta and affect splicing. (PubMed id 10749975)¹ Venables J.P....Eperon E.C. (2000)
Structure and organization of the RBMY genes on the human Y chromosome: transposition and amplification of an ancestral autosomal hnRNPG gene. (PubMed id 9598316)¹ Chai N.-N.... Yen P.H. (1998)
Degeneracy in human multicopy RBM (YRRM), a candidate spermatogenesis gene. (PubMed id 8875892)¹ Prosser J.... Cooke H.J. (1996)

(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: 159163	HGNC: 23974	AceView: MGC33094	Ensembl:ENSG00000169800	euGenes: HUgn159163
ECgene: RBMY1F	H-InvDB: RBMY1F

(According to HUGE)
About This Section

(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 RBMY1F	Pharmacogenomics, SNPs, Pathways

Intellectual Property for RBMY1F gene
(Patent information from GeneIP, Licensable technologies from WIS Yeda, Salk, Tufts, IP news from LifeMap Sciences, Inc.)

About This Section

Patent Information for RBMY1F gene:
Search GeneIP for patents involving RBMY1F

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, Cloud-Clone Corp., Thermo Fisher Scientific, LSBio, 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)
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GeneCards Homepage - Last full update: 23 Oct 2013 - Incrementals: 4 Nov 2013 , 7 Nov 2013

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Category			TGFB1 (GIFtS: 73) transforming growth factor, beta 1
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 RBMY1F gene at Home site.

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RBMY1F Gene

RNA Binding Motif Protein, Y-Linked, Family 1, Member F

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RBMY1F Gene

RNA Binding Motif Protein, Y-Linked, Family 1, Member F

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