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HEATR5B HEAT repeat containing 5B [ Homo sapiens (human) ]

Gene ID: 54497, updated on 6-Sep-2022

Summary

Official Symbol
HEATR5Bprovided by HGNC
Official Full Name
HEAT repeat containing 5Bprovided by HGNC
Primary source
HGNC:HGNC:29273
See related
Ensembl:ENSG00000008869 MIM:619627; AllianceGenome:HGNC:29273
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
p200; p200a
Summary
Predicted to be involved in endocytosis; protein localization; and retrograde transport, endosome to Golgi. Located in membrane. [provided by Alliance of Genome Resources, Apr 2022]
Expression
Ubiquitous expression in lymph node (RPKM 6.3), thyroid (RPKM 6.0) and 25 other tissues See more
Orthologs
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Genomic context

See HEATR5B in Genome Data Viewer
Location:
2p22.2
Exon count:
37
Annotation release Status Assembly Chr Location
110 current GRCh38.p14 (GCF_000001405.40) 2 NC_000002.12 (36980895..37084372, complement)
110 current T2T-CHM13v2.0 (GCF_009914755.1) 2 NC_060926.1 (36988032..37091507, complement)
105.20220307 previous assembly GRCh37.p13 (GCF_000001405.25) 2 NC_000002.11 (37208038..37311515, complement)

Chromosome 2 - NC_000002.12Genomic Context describing neighboring genes Neighboring gene Sharpr-MPRA regulatory region 5815 Neighboring gene striatin Neighboring gene RNA, U6 small nuclear 577, pseudogene Neighboring gene G-patch domain containing 11 Neighboring gene eukaryotic translation initiation factor 2 alpha kinase 2 Neighboring gene ARL14EP pseudogene 1

Genomic regions, transcripts, and products

Bibliography

GeneRIFs: Gene References Into Functions

What's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Clone Names

  • KIAA1414

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in endocytosis IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein localization IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
involved_in protein transport IEA
Inferred from Electronic Annotation
more info
 
involved_in retrograde transport, endosome to Golgi IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
Component Evidence Code Pubs
located_in clathrin-coated vesicle IEA
Inferred from Electronic Annotation
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
is_active_in endocytic vesicle IBA
Inferred from Biological aspect of Ancestor
more info
PubMed 
located_in intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
located_in membrane HDA PubMed 
located_in nuclear speck IDA
Inferred from Direct Assay
more info
 
located_in perinuclear region of cytoplasm IEA
Inferred from Electronic Annotation
more info
 

General protein information

Preferred Names
HEAT repeat-containing protein 5B

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_019024.3NP_061897.1  HEAT repeat-containing protein 5B

    See identical proteins and their annotated locations for NP_061897.1

    Status: VALIDATED

    Source sequence(s)
    AB037835, AC007404, AC007899, AK096637, AV759566, BX538008, CA432330
    Consensus CDS
    CCDS33181.1
    UniProtKB/Swiss-Prot
    Q9NVL7, Q9P2D3
    Related
    ENSP00000233099.5, ENST00000233099.6
    Conserved Domains (1) summary
    sd00044
    Location:852882
    HEAT; HEAT repeat [structural motif]

RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 110 details...Open this link in a new tab

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000002.12 Reference GRCh38.p14 Primary Assembly

    Range
    36980895..37084372 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_047444812.1XP_047300768.1  HEAT repeat-containing protein 5B isoform X6

  2. XM_047444810.1XP_047300766.1  HEAT repeat-containing protein 5B isoform X3

  3. XM_006712035.5XP_006712098.1  HEAT repeat-containing protein 5B isoform X2

    Conserved Domains (1) summary
    sd00044
    Location:840870
    HEAT; HEAT repeat [structural motif]
  4. XM_047444811.1XP_047300767.1  HEAT repeat-containing protein 5B isoform X5

  5. XM_017004378.2XP_016859867.1  HEAT repeat-containing protein 5B isoform X4

    UniProtKB/Swiss-Prot
    Q9P2D3
  6. XM_006712034.3XP_006712097.1  HEAT repeat-containing protein 5B isoform X1

    Conserved Domains (1) summary
    sd00044
    Location:852882
    HEAT; HEAT repeat [structural motif]
  7. XM_047444814.1XP_047300770.1  HEAT repeat-containing protein 5B isoform X8

  8. XM_011532935.4XP_011531237.1  HEAT repeat-containing protein 5B isoform X9

    Conserved Domains (1) summary
    sd00044
    Location:235265
    HEAT; HEAT repeat [structural motif]
  9. XM_047444813.1XP_047300769.1  HEAT repeat-containing protein 5B isoform X7

  10. XM_047444815.1XP_047300771.1  HEAT repeat-containing protein 5B isoform X10

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060926.1 Alternate T2T-CHM13v2.0

    Range
    36988032..37091507 complement
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)