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

Gene ID: 728492, updated on 11-Jun-2021

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
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
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Genomic context

See SERF1B in Genome Data Viewer
Location:
5q13.2
Exon count:
4
Annotation release Status Assembly Chr Location
109.20210514 current GRCh38.p13 (GCF_000001405.39) 5 NC_000005.10 (70025251..70043113)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (69321078..69338940)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene GUSB pseudogene 13 Neighboring gene uncharacterized LOC105369228 Neighboring gene uncharacterized LOC112267941 Neighboring gene cadherin 12 pseudogene 2 Neighboring gene mitochondrial import receptor subunit TOM5 homolog pseudogene Neighboring gene survival of motor neuron 2, centromeric Neighboring gene NAIP pseudogene 2 Neighboring gene GUSB pseudogene 14

Genomic regions, transcripts, and products

Expression

  • 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

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC125278, MGC125279, MGC125280

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables molecular_function ND
No biological Data available
more info
 
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

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)

  1. NM_001178087.2NP_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, ENST00000380751.9
  2. NM_022978.3NP_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
    O75920
    Related
    ENSP00000370126.4, ENST00000380750.8
    Conserved Domains (1) summary
    pfam04419
    Location:137
    4F5; 4F5 protein family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20210514

The following sections contain reference sequences that belong to a specific genome build. Explain

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p13 Primary Assembly

    Range
    70025251..70043113
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Reference GRCh38.p13 ALT_REF_LOCI_2

Genomic

  1. NT_187651.1 Reference GRCh38.p13 ALT_REF_LOCI_2

    Range
    250583..268460
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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