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C9orf131 chromosome 9 open reading frame 131 [ Homo sapiens (human) ]

Gene ID: 138724, updated on 23-Nov-2021

Summary

Official Symbol
C9orf131provided by HGNC
Official Full Name
chromosome 9 open reading frame 131provided by HGNC
Primary source
HGNC:HGNC:31418
See related
Ensembl:ENSG00000174038
Gene type
protein coding
RefSeq status
VALIDATED
Organism
Homo sapiens
Lineage
Eukaryota; Metazoa; Chordata; Craniata; Vertebrata; Euteleostomi; Mammalia; Eutheria; Euarchontoglires; Primates; Haplorrhini; Catarrhini; Hominidae; Homo
Expression
Restricted expression toward testis (RPKM 21.1) See more
Orthologs
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Genomic context

See C9orf131 in Genome Data Viewer
Location:
9p13.3
Exon count:
3
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (35041095..35045986)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (35041092..35045983)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105376025 Neighboring gene SYF2 pre-mRNA splicing factor pseudogene 2 Neighboring gene RNA, 7SL, cytoplasmic 338, pseudogene Neighboring gene valosin containing protein

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

HIV-1 interactions

Replication interactions

Interaction Pubs
Knockdown of chromosome 9 open reading frame 131 (C9orf131) by siRNA inhibits HIV-1 replication in HeLa-derived TZM-bl cells PubMed

Go to the HIV-1, Human Interaction Database

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00273, MGC41945

General protein information

Preferred Names
uncharacterized protein C9orf131

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_001040410.3NP_001035500.1  uncharacterized protein C9orf131 isoform B

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate in-frame splice site in the 5' coding region, compared to variant1. It encodes isoform B, which is shorter than isoform A.
    Source sequence(s)
    BC045643, DB091135, DB097641
    UniProtKB/Swiss-Prot
    Q5VYM1
    Conserved Domains (1) summary
    pfam14650
    Location:154199
    FAM75; FAM75 family
  2. NM_001040411.3NP_001035501.1  uncharacterized protein C9orf131 isoform C

    Status: VALIDATED

    Description
    Transcript Variant: This variant (3) contains an alternate 5' terminal exon, resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform C, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    BC045643, DB072581, DB081756, DB093341
    Consensus CDS
    CCDS47962.1
    UniProtKB/Swiss-Prot
    Q5VYM1
    Related
    ENSP00000346472.5, ENST00000354479.5
    Conserved Domains (1) summary
    pfam14650
    Location:116161
    FAM75; FAM75 family
  3. NM_001040412.3NP_001035502.1  uncharacterized protein C9orf131 isoform D

    Status: VALIDATED

    Description
    Transcript Variant: This variant (4) contains an alternate 5' exon structure, resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform D, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    BC045643, DB072581, DB093341, DB096349
    Consensus CDS
    CCDS47961.1
    UniProtKB/Swiss-Prot
    Q5VYM1
    Related
    ENSP00000393683.2, ENST00000421362.6
    Conserved Domains (1) summary
    pfam14650
    Location:141186
    FAM75; FAM75 family
  4. NM_001287391.2NP_001274320.1  uncharacterized protein C9orf131 isoform E

    Status: VALIDATED

    Description
    Transcript Variant: This variant (5) contains an alternate 5' terminal exon, resulting in different 5' UTR and 5' coding regions, compared to variant 1. It encodes isoform E, which is shorter and has a distinct N-terminus, compared to isoform A.
    Source sequence(s)
    AL353795, BC045643, DB077276, DB097641
    UniProtKB/Swiss-Prot
    Q5VYM1
    Conserved Domains (1) summary
    pfam14650
    Location:116161
    FAM75; FAM75 family
  5. NM_203299.4NP_976044.2  uncharacterized protein C9orf131 isoform A

    See identical proteins and their annotated locations for NP_976044.2

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (A).
    Source sequence(s)
    BC045643, DB068600, DB093341
    Consensus CDS
    CCDS6572.2
    UniProtKB/Swiss-Prot
    Q5VYM1
    Related
    ENSP00000308279.5, ENST00000312292.6
    Conserved Domains (1) summary
    pfam14650
    Location:189234
    FAM75; FAM75 family

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.20211119

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000009.12 Reference GRCh38.p13 Primary Assembly

    Range
    35041095..35045986
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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