SERF1B small EDRK-rich factor 1B [Homo sapiens (human)] - Gene

Summary

Official Symbol: SERF1Bprovided by HGNC
Official Full Name: small EDRK-rich factor 1Bprovided by HGNC
Primary source: HGNC:HGNC:10756
See related: Ensembl:ENSG00000205572 AllianceGenome:HGNC:10756
Gene type: protein coding
RefSeq status: REVIEWED
Organism: Homo sapiens
Lineage: Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Also known as: h4F5; FAM2B; H4F5C
Summary: This gene is part of a 500 kb inverted duplication on chromosome 5q13. This duplicated region contains at least four genes and repetitive elements which make it prone to rearrangements and deletions. The repetitiveness and complexity of the sequence have also caused difficulty in determining the organization of this genomic region. This gene is the centromeric copy which is identical to the telomeric copy. Alternatively spliced transcripts have been documented but it is unclear whether alternative splicing occurs for both the centromeric and telomeric copies of the gene. The gene encodes a protein of unknown function which bears low-level homology with the RNA-binding domain of matrin-cyclophilin, a protein which colocalizes with small nuclear ribonucleoproteins (snRNPs) and the SMN1 gene product. [provided by RefSeq, Jul 2008]
Annotation information: Note: June 2007: The sequences of SERF1A and SERF1B are identical. The names were switched so that the location of each gene corresponds with the official nomenclature, which specifies telomeric and centromeric copies. [26 Jun 2007]
Expression: Broad expression in testis (RPKM 16.5), brain (RPKM 11.2) and 25 other tissues See more
Orthologs: mouse all
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Genomic context

Location:: 5q13.2

Exon count:: 4

Annotation release	Status	Assembly	Chr	Location
RS_2024_08	current	GRCh38.p14 (GCF_000001405.40)	5	NC_000005.10 (70025251..70043113)
RS_2024_08	current	T2T-CHM13v2.0 (GCF_009914755.1)	5	NC_060929.1 (70844220..70862105, complement)
RS_2024_09	previous assembly	GRCh37.p13 (GCF_000001405.25)	5	NC_000005.9 (69321078..69338940)

Chromosome 5 - NC_000005.10 Genomic Context describing neighboring genes

Genomic regions, transcripts, and products

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Go to reference sequence details

Genomic Sequence:

Go to nucleotide: Graphics FASTA GenBank

Expression

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See details

Project title: HPA RNA-seq normal tissues
Description: RNA-seq was performed of tissue samples from 95 human individuals representing 27 different tissues in order to determine tissue-specificity of all protein-coding genes
BioProject: PRJEB4337
Publication: PMID 24309898
Analysis date: Wed Apr 4 07:08:55 2018

Bibliography

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GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Submit: New GeneRIF Correction

Phenotypes

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Review eQTL and phenotype association data in this region using PheGenI

Variation

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See variants in ClinVar

See studies and variants in dbVar

See Variation Viewer (GRCh37.p13)

See Variation Viewer (GRCh38)

Interactions

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Products	Interactant	Other Gene	Complex	Source	Pubs	Description

General gene information

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Markers

SERF1B__5381 (e-PCR)
- UniSTS:463894

NoName (e-PCR)
- UniSTS:483657

NoName (e-PCR)
- UniSTS:482905

RH103040 (e-PCR)
- UniSTS:97374

D5F149S1 (e-PCR)
- UniSTS:156648

D5F154S1 (e-PCR)
- UniSTS:156653

Gene Ontology Provided by GOA

Function	Evidence Code	Pubs
enables protein binding	IPI Inferred from Physical Interaction more info	PubMed

Process	Evidence Code	Pubs
involved_in amyloid fibril formation	IMP Inferred from Mutant Phenotype more info	PubMed
involved_in nervous system development	TAS Traceable Author Statement more info	PubMed
involved_in protein destabilization	IMP Inferred from Mutant Phenotype more info	PubMed

Component	Evidence Code	Pubs
located_in cytosol	IMP Inferred from Mutant Phenotype more info	PubMed
located_in nucleus	IMP Inferred from Mutant Phenotype more info	PubMed
part_of protein-containing complex	IMP Inferred from Mutant Phenotype more info	PubMed

General protein information

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Preferred Names: small EDRK-rich factor 1

Names: SMA modifier 1; protein 4F5; small EDRK-rich factor 1B (centromeric)

NCBI Reference Sequences (RefSeq)

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RefSeqs maintained independently of Annotated Genomes

These reference sequences exist independently of genome builds. Explain

These reference sequences are curated independently of the genome annotation cycle, so their versions may not match the RefSeq versions in the current genome build. Identify version mismatches by comparing the version of the RefSeq in this section to the one reported in Genomic regions, transcripts, and products above.

mRNA and Protein(s)

NM_001178087.2 → NP_001171558.1 small EDRK-rich factor 1 isoform 1

See identical proteins and their annotated locations for NP_001171558.1

Status: REVIEWED

Description

Transcript Variant: This variant (1) encodes the longer isoform (1).

Source sequence(s)

AC139277

Consensus CDS

CCDS54866.1

UniProtKB/Swiss-Prot

O75920

Related

ENSP00000370127.5, ENST00000380751.10
NM_022978.3 → NP_075267.1 small EDRK-rich factor 1 isoform 2

See identical proteins and their annotated locations for NP_075267.1

Status: REVIEWED

Description

Transcript Variant: This variant (2) has an alternate 3' exon, as compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus, as compared to isoform 1.

Source sequence(s)

AC139277, BC103687, BC104738, BM686659, DB454907

Consensus CDS

CCDS43326.1

UniProtKB/Swiss-Prot

B7ZKM2, O75919, O75920, Q52LK5

UniProtKB/TrEMBL

D6RCL9

Related

ENSP00000370126.4, ENST00000380750.8

Conserved Domains (1) summary

pfam04419
Location:1 → 37

4F5; 4F5 protein family