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C9orf24 chromosome 9 open reading frame 24 [ Homo sapiens (human) ]

Gene ID: 84688, updated on 23-Nov-2021

Summary

Official Symbol
C9orf24provided by HGNC
Official Full Name
chromosome 9 open reading frame 24provided by HGNC
Primary source
HGNC:HGNC:19919
See related
Ensembl:ENSG00000164972 MIM:619502
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
CBE1; SMRP1; NYD-SP22; bA573M23.4
Summary
This gene encodes a nuclear- or perinuclear-localized protein with no predicted domains or similarity to other known proteins. Expression of this gene is induced during the differentiation of bronchial epithelial cells, and the encoded protein may play a role in ciliogenesis. Alternatively spliced transcript variants encoding multiple isoforms have been observed for this gene. [provided by RefSeq, Nov 2011]
Expression
Broad expression in brain (RPKM 5.2), testis (RPKM 5.0) and 21 other tissues See more
Orthologs
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Genomic context

See C9orf24 in Genome Data Viewer
Location:
9p13.3
Exon count:
10
Annotation release Status Assembly Chr Location
109.20211119 current GRCh38.p13 (GCF_000001405.39) 9 NC_000009.12 (34378463..34397942, complement)
105.20201022 previous assembly GRCh37.p13 (GCF_000001405.25) 9 NC_000009.11 (34379017..34397808, complement)

Chromosome 9 - NC_000009.12Genomic Context describing neighboring genes Neighboring gene kinesin family member 24 Neighboring gene nudix hydrolase 2 Neighboring gene myogenesis regulating glycosidase (putative) Neighboring gene family with sequence similarity 219 member A Neighboring gene Sharpr-MPRA regulatory region 4178 Neighboring gene dynein axonemal intermediate chain 1 Neighboring gene RN7SK pseudogene 24

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

Bibliography

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • MGC32921, MGC33614

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables alpha-tubulin binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in cell differentiation IEA
Inferred from Electronic Annotation
more info
 
involved_in cellular protein-containing complex assembly IEA
Inferred from Electronic Annotation
more info
 
involved_in spermatogenesis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in manchette IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in manchette ISS
Inferred from Sequence or Structural Similarity
more info
 
located_in nucleoplasm IDA
Inferred from Direct Assay
more info
 
located_in nucleus HDA PubMed 
located_in nucleus IDA
Inferred from Direct Assay
more info
PubMed 
is_active_in perinuclear region of cytoplasm IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in perinuclear region of cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
spermatid-specific manchette-related protein 1
Names
ciliated bronchial epithelial protein 1
ciliated bronchial epithelium 1
testis development protein NYD-SP22

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_001252195.2NP_001239124.1  spermatid-specific manchette-related protein 1 isoform 4

    See identical proteins and their annotated locations for NP_001239124.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream, in-frame start codon and a frameshift, compared to variant 1. The encoded isoform (4) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA338648, BC029484, BI561111
    Consensus CDS
    CCDS59121.1
    UniProtKB/Swiss-Prot
    Q8NCR6
    Related
    ENSP00000368422.1, ENST00000379127.1
    Conserved Domains (1) summary
    pfam15181
    Location:1104
    SMRP1; Spermatid-specific manchette-related protein 1
  2. NM_032596.4NP_115985.2  spermatid-specific manchette-related protein 1 isoform 1

    See identical proteins and their annotated locations for NP_115985.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) represents the longest transcript and encodes the longest isoform (1).
    Source sequence(s)
    AK058087, BC029484
    Consensus CDS
    CCDS6554.1
    UniProtKB/Swiss-Prot
    Q8NCR6
    Related
    ENSP00000297623.2, ENST00000297623.7
    Conserved Domains (1) summary
    pfam15181
    Location:1249
    SMRP1; Spermatid-specific manchette-related protein 1
  3. NM_147168.2NP_671697.1  spermatid-specific manchette-related protein 1 isoform 2

    See identical proteins and their annotated locations for NP_671697.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR, lacks a portion of the 5' coding region and initiates translation at a downstream, in-frame start codon, compared to variant 1. The encoded isoform (2) has a shorter N-terminus compared to isoform 1.
    Source sequence(s)
    AA338648, BC029484, CB854584
    Consensus CDS
    CCDS6555.1
    UniProtKB/Swiss-Prot
    Q8NCR6
    Related
    ENSP00000368428.3, ENST00000379133.7
    Conserved Domains (1) summary
    pfam15181
    Location:1127
    SMRP1; Spermatid-specific manchette-related protein 1
  4. NM_147169.3NP_671698.1  spermatid-specific manchette-related protein 1 isoform 3

    See identical proteins and their annotated locations for NP_671698.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) has multiple differences, compared to variant 1. These differences result in a distinct 5' UTR, translation initiation at a downstream, in-frame start codon and a frameshift, compared to variant 1. The encoded isoform (3) is shorter and has a distinct C-terminus, compared to isoform 1.
    Source sequence(s)
    AA338648, AF367474, BC029484
    Consensus CDS
    CCDS6553.1
    UniProtKB/Swiss-Prot
    Q8NCR6
    Related
    ENSP00000368421.3, ENST00000379126.7
    Conserved Domains (1) summary
    pfam15181
    Location:156
    SMRP1; Spermatid-specific manchette-related protein 1

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
    34378463..34397942 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024447705.1XP_024303473.1  spermatid-specific manchette-related protein 1 isoform X2

    Conserved Domains (1) summary
    pfam15181
    Location:39242
    SMRP1; Spermatid-specific manchette-related protein 1
  2. XM_005251616.5XP_005251673.1  spermatid-specific manchette-related protein 1 isoform X1

    Conserved Domains (1) summary
    pfam15181
    Location:1239
    SMRP1; Spermatid-specific manchette-related protein 1
  3. XM_011518055.2XP_011516357.1  spermatid-specific manchette-related protein 1 isoform X3

    See identical proteins and their annotated locations for XP_011516357.1

    UniProtKB/Swiss-Prot
    Q8NCR6
    Conserved Domains (1) summary
    pfam15181
    Location:1104
    SMRP1; Spermatid-specific manchette-related protein 1
  4. XM_005251618.4XP_005251675.1  spermatid-specific manchette-related protein 1 isoform X3

    See identical proteins and their annotated locations for XP_005251675.1

    UniProtKB/Swiss-Prot
    Q8NCR6
    Conserved Domains (1) summary
    pfam15181
    Location:1104
    SMRP1; Spermatid-specific manchette-related protein 1
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