Format

Send to:

Choose Destination

DNAAF6 dynein axonemal assembly factor 6 [ Homo sapiens (human) ]

Gene ID: 139212, updated on 1-Jun-2020

Summary

Official Symbol
DNAAF6provided by HGNC
Official Full Name
dynein axonemal assembly factor 6provided by HGNC
Primary source
HGNC:HGNC:28570
See related
Ensembl:ENSG00000080572 MIM:300933
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
Also known as
CILD36; PIH1D3; CXorf41; NYSAR97; TWISTER
Expression
Restricted expression toward testis (RPKM 2.7) See more
Orthologs

Genomic context

See DNAAF6 in Genome Data Viewer
Location:
Xq22.3
Exon count:
8
Annotation release Status Assembly Chr Location
109.20200522 current GRCh38.p13 (GCF_000001405.39) X NC_000023.11 (107206611..107244247)
105 previous assembly GRCh37.p13 (GCF_000001405.25) X NC_000023.10 (106449862..106487473)

Chromosome X - NC_000023.11Genomic Context describing neighboring genes Neighboring gene RNA binding motif protein 41 Neighboring gene nucleoporin 62 C-terminal like Neighboring gene GTF3C6 pseudogene 2 Neighboring gene MYCL pseudogene 1 Neighboring gene DnaJ heat shock protein family (Hsp40) member A1 pseudogene 3

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

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Homology

Clone Names

  • MGC35261

Gene Ontology Provided by GOA

Function Evidence Code Pubs
chaperone binding ISS
Inferred from Sequence or Structural Similarity
more info
 
dynein intermediate chain binding IMP
Inferred from Mutant Phenotype
more info
PubMed 
protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
axonemal dynein complex assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
axonemal dynein complex assembly ISS
Inferred from Sequence or Structural Similarity
more info
 
cilium movement IMP
Inferred from Mutant Phenotype
more info
PubMed 
flagellated sperm motility IMP
Inferred from Mutant Phenotype
more info
PubMed 
flagellated sperm motility ISS
Inferred from Sequence or Structural Similarity
more info
 
inner dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
outer dynein arm assembly IMP
Inferred from Mutant Phenotype
more info
PubMed 
Component Evidence Code Pubs
cytoplasm IDA
Inferred from Direct Assay
more info
PubMed 
cytoplasm ISS
Inferred from Sequence or Structural Similarity
more info
 
trans-Golgi network IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
protein PIH1D3
Names
PIH1 domain containing 3
PIH1 domain-containing protein 3
sarcoma antigen NY-SAR-97

NCBI Reference Sequences (RefSeq)

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.

Genomic

  1. NG_016377.1 RefSeqGene

    Range
    4980..42616
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001169154.1NP_001162625.1  protein PIH1D3

    See identical proteins and their annotated locations for NP_001162625.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (1) represents the longer transcript. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AI147427, AL136112, BC033510
    Consensus CDS
    CCDS14528.1
    UniProtKB/Swiss-Prot
    Q9NQM4
    Related
    ENSP00000441930.1, ENST00000535523.5
    Conserved Domains (1) summary
    cl00175
    Location:110202
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
  2. NM_173494.2NP_775765.1  protein PIH1D3

    See identical proteins and their annotated locations for NP_775765.1

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) differs in the 5' UTR compared to variant 1. Both variants 1 and 2 encode the same protein.
    Source sequence(s)
    AL136112, BC033510
    Consensus CDS
    CCDS14528.1
    UniProtKB/Swiss-Prot
    Q9NQM4
    Related
    ENSP00000361531.3, ENST00000372453.8
    Conserved Domains (1) summary
    cl00175
    Location:110202
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.

RefSeqs of Annotated Genomes: Homo sapiens Updated Annotation Release 109.

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

Reference GRCh38.p13 Primary Assembly

Genomic

  1. NC_000023.11 Reference GRCh38.p13 Primary Assembly

    Range
    107206611..107244247
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_011530855.2XP_011529157.1  protein PIH1D3 isoform X1

    See identical proteins and their annotated locations for XP_011529157.1

    UniProtKB/Swiss-Prot
    Q9NQM4
    Related
    ENSP00000337757.4, ENST00000336387.4
    Conserved Domains (1) summary
    cl00175
    Location:110202
    alpha-crystallin-Hsps_p23-like; alpha-crystallin domain (ACD) found in alpha-crystallin-type small heat shock proteins, and a similar domain found in p23 (a cochaperone for Hsp90) and in other p23-like proteins.
Support Center