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DNHD1 dynein heavy chain domain 1 [ Homo sapiens (human) ]

Gene ID: 144132, updated on 3-May-2020

Summary

Official Symbol
DNHD1provided by HGNC
Official Full Name
dynein heavy chain domain 1provided by HGNC
Primary source
HGNC:HGNC:26532
See related
Ensembl:ENSG00000179532 MIM:617277
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
DHCD1; CCDC35; DNHD1L; C11orf47
Expression
Broad expression in testis (RPKM 7.9), spleen (RPKM 1.7) and 18 other tissues See more
Orthologs

Genomic context

See DNHD1 in Genome Data Viewer
Location:
11p15.4
Exon count:
41
Annotation release Status Assembly Chr Location
109.20200228 current GRCh38.p13 (GCF_000001405.39) 11 NC_000011.10 (6497280..6572020)
105 previous assembly GRCh37.p13 (GCF_000001405.25) 11 NC_000011.9 (6517994..6593255)

Chromosome 11 - NC_000011.10Genomic Context describing neighboring genes Neighboring gene translocase of inner mitochondrial membrane 10B Neighboring gene voltage dependent anion channel 1 pseudogene Neighboring gene ribosomal RNA processing 8 Neighboring gene Sharpr-MPRA regulatory region 730 Neighboring gene TATA-box binding protein associated factor 10 Neighboring gene integrin linked kinase Neighboring gene tripeptidyl peptidase 1

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

Phenotypes

NHGRI GWAS Catalog

Description
GWAS of DNA methylation variation within imprinting control regions suggests parent-of-origin association.
NHGRI GWA Catalog

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • FLJ00251, FLJ32752, FLJ35709, FLJ39625, FLJ43897, FLJ46184, MGC133191, DKFZp434G0812, DKFZp686J0796, DKFZp686N1238

Gene Ontology Provided by GOA

Function Evidence Code Pubs
ATP binding IEA
Inferred from Electronic Annotation
more info
 
ATP-dependent microtubule motor activity, minus-end-directed IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein light intermediate chain binding IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Process Evidence Code Pubs
microtubule-based movement IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
axoneme IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
dynein complex IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
extracellular exosome HDA PubMed 

General protein information

Preferred Names
dynein heavy chain domain-containing protein 1
Names
DNHD1 variant protein
coiled-coil domain containing 35
dynein heavy chain domain 1-like protein

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.

mRNA and Protein(s)

  1. NM_144666.3NP_653267.2  dynein heavy chain domain-containing protein 1 isoform 1

    See identical proteins and their annotated locations for NP_653267.2

    Status: VALIDATED

    Source sequence(s)
    AC009796, AC084337
    Consensus CDS
    CCDS44532.1
    UniProtKB/Swiss-Prot
    Q96M86
    UniProtKB/TrEMBL
    B0I1S4
    Related
    ENSP00000254579.6, ENST00000254579.11
    Conserved Domains (5) summary
    pfam03028
    Location:39794741
    Dynein_heavy; Dynein heavy chain and region D6 of dynein motor
    pfam08393
    Location:10191467
    DHC_N2; Dynein heavy chain, N-terminal region 2
    pfam12777
    Location:31933467
    MT; Microtubule-binding stalk of dynein motor
    pfam12781
    Location:36643802
    AAA_9; ATP-binding dynein motor region D5
    cl21455
    Location:16491867
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  2. NM_173589.4NP_775860.3  dynein heavy chain domain-containing protein 1 isoform 2

    See identical proteins and their annotated locations for NP_775860.3

    Status: VALIDATED

    Description
    Transcript Variant: This variant (2) uses an alternate 3' splice pattern that results in a substantially shorter transcript, compared to variant 1. The resulting isoform (2) has a shorter and distinct C-terminus that lacks DHC_N2 and dynein heavy chain domains, compared to isoform 1.
    Source sequence(s)
    AC084337, AK093028, BC111765, BF509041, BX648742, DB099871
    Consensus CDS
    CCDS7767.1
    UniProtKB/Swiss-Prot
    Q96M86
    Related
    ENSP00000346716.3, ENST00000354685.7
    Conserved Domains (1) summary
    COG3629
    Location:403477
    DnrI; DNA-binding transcriptional activator of the SARP family [Signal transduction mechanisms]

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_000011.10 Reference GRCh38.p13 Primary Assembly

    Range
    6497280..6572020
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)
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