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HMMR hyaluronan mediated motility receptor [ Homo sapiens (human) ]

Gene ID: 3161, updated on 10-Dec-2024

Summary

Official Symbol
HMMRprovided by HGNC
Official Full Name
hyaluronan mediated motility receptorprovided by HGNC
Primary source
HGNC:HGNC:5012
See related
Ensembl:ENSG00000072571 MIM:600936; AllianceGenome:HGNC:5012
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
CD168; IHABP; RHAMM
Summary
The protein encoded by this gene is involved in cell motility. It is expressed in breast tissue and together with other proteins, it forms a complex with BRCA1 and BRCA2, thus is potentially associated with higher risk of breast cancer. Alternatively spliced transcript variants encoding different isoforms have been noted for this gene. [provided by RefSeq, Dec 2008]
Expression
Biased expression in testis (RPKM 12.7), lymph node (RPKM 9.0) and 11 other tissues See more
Orthologs
NEW
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Genomic context

See HMMR in Genome Data Viewer
Location:
5q34
Exon count:
18
Annotation release Status Assembly Chr Location
RS_2024_08 current GRCh38.p14 (GCF_000001405.40) 5 NC_000005.10 (163460632..163491941)
RS_2024_08 current T2T-CHM13v2.0 (GCF_009914755.1) 5 NC_060929.1 (163995809..164027111)
RS_2024_09 previous assembly GRCh37.p13 (GCF_000001405.25) 5 NC_000005.9 (162887638..162918947)

Chromosome 5 - NC_000005.10Genomic Context describing neighboring genes Neighboring gene uncharacterized LOC105377700 Neighboring gene uncharacterized LOC124901125 Neighboring gene MPRA-validated peak5562 silencer Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:162756879-162757856 Neighboring gene OCT4-NANOG-H3K27ac-H3K4me1 hESC enhancer GRCh37_chr5:162757857-162758834 Neighboring gene NANOG hESC enhancer GRCh37_chr5:162800374-162800875 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16588 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23575 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16589 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:162864697-162865274 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23577 Neighboring gene ATAC-STARR-seq lymphoblastoid silent region 16590 Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23578 Neighboring gene NudC domain containing 2 Neighboring gene cyclin G1 Neighboring gene OCT4-NANOG-H3K27ac hESC enhancer GRCh37_chr5:162929934-162930742 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:162932358-162933164 Neighboring gene HMMR antisense RNA 1 Neighboring gene Sharpr-MPRA regulatory region 406 Neighboring gene methionine adenosyltransferase 2 non-catalytic beta subunit Neighboring gene ATAC-STARR-seq lymphoblastoid active region 23582 Neighboring gene uncharacterized LOC102724458 Neighboring gene H3K27ac hESC enhancer GRCh37_chr5:163145016-163145516

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?

Pathways from PubChem

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Clone Names

  • MGC119494, MGC119495

Gene Ontology Provided by GOA

Function Evidence Code Pubs
enables cargo receptor activity IEA
Inferred from Electronic Annotation
more info
 
enables hyaluronic acid binding IEA
Inferred from Electronic Annotation
more info
 
enables protein binding IPI
Inferred from Physical Interaction
more info
PubMed 
Process Evidence Code Pubs
involved_in hyaluronan catabolic process IEA
Inferred from Electronic Annotation
more info
 
involved_in receptor-mediated endocytosis IEA
Inferred from Electronic Annotation
more info
 
Component Evidence Code Pubs
located_in cell surface IEA
Inferred from Electronic Annotation
more info
 
located_in centrosome IDA
Inferred from Direct Assay
more info
 
located_in cytosol IDA
Inferred from Direct Assay
more info
 
located_in cytosol TAS
Traceable Author Statement
more info
 
located_in membrane HDA PubMed 
located_in microtubule cytoskeleton IDA
Inferred from Direct Assay
more info
 
located_in plasma membrane TAS
Traceable Author Statement
more info
 
located_in spindle IDA
Inferred from Direct Assay
more info
PubMed 

General protein information

Preferred Names
hyaluronan mediated motility receptor
Names
intracellular hyaluronic acid-binding protein
receptor for hyaluronan-mediated motility

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.

Genomic

  1. NG_023309.1 RefSeqGene

    Range
    5122..36431
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. NM_001142556.2NP_001136028.1  hyaluronan mediated motility receptor isoform a

    See identical proteins and their annotated locations for NP_001136028.1

    Status: REVIEWED

    Description
    Transcript Variant: This variant (1) encodes the longest isoform (a).
    Source sequence(s)
    AW629232, AY623426, DB091289
    Consensus CDS
    CCDS47334.1
    UniProtKB/TrEMBL
    B4DZK6
    Related
    ENSP00000377492.4, ENST00000393915.9
    Conserved Domains (3) summary
    pfam01496
    Location:77145
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam15905
    Location:16339
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
    pfam15908
    Location:553709
    HMMR_C; Hyaluronan mediated motility receptor C-terminal
  2. NM_001142557.2NP_001136029.1  hyaluronan mediated motility receptor isoform d

    Status: REVIEWED

    Description
    Transcript Variant: This variant (4) is missing 3 consecutive internal coding exons compared to transcript variant 1. This results in translation initiation from an alternate AUG start site and a shorter isoform (d) with an unique N-terminus compared to isoform a.
    Source sequence(s)
    AW629232, AY623426, DB091289
    Consensus CDS
    CCDS47335.1
    UniProtKB/TrEMBL
    B4DZK6
    Related
    ENSP00000402673.2, ENST00000432118.6
    Conserved Domains (3) summary
    pfam01496
    Location:1458
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam15905
    Location:5252
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
    pfam15908
    Location:466622
    HMMR_C; Hyaluronan mediated motility receptor C-terminal
  3. NM_012484.3NP_036616.2  hyaluronan mediated motility receptor isoform b

    See identical proteins and their annotated locations for NP_036616.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (2) uses an alternate acceptor splice site at one of the coding exons compared to transcript variant 1, resulting in an isoform (b) that is 1 aa shorter than isoform a.
    Source sequence(s)
    AF032862, AW629232, AY623426, DB091289
    Consensus CDS
    CCDS4362.1
    UniProtKB/Swiss-Prot
    A8K3G2, B4E114, D3DQK9, D3DQL0, E9PCS0, O75330, Q32N02, Q92767
    UniProtKB/TrEMBL
    B4DZK6
    Related
    ENSP00000351554.3, ENST00000358715.3
    Conserved Domains (3) summary
    COG1196
    Location:218576
    Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
    pfam15905
    Location:16338
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
    pfam15908
    Location:552708
    HMMR_C; Hyaluronan mediated motility receptor C-terminal
  4. NM_012485.3NP_036617.2  hyaluronan mediated motility receptor isoform c

    See identical proteins and their annotated locations for NP_036617.2

    Status: REVIEWED

    Description
    Transcript Variant: This variant (3) is missing an in-frame coding exon compared to transcript variant 1, resulting in an isoform (c) which lacks an internal 16 aa segment compared to isoform a.
    Source sequence(s)
    AW629232, AY623426, DB091289
    Consensus CDS
    CCDS4363.1
    UniProtKB/TrEMBL
    B4DZK6
    Related
    ENSP00000185942.6, ENST00000353866.7
    Conserved Domains (3) summary
    pfam01496
    Location:85129
    V_ATPase_I; V-type ATPase 116kDa subunit family
    pfam15905
    Location:16323
    HMMR_N; Hyaluronan mediated motility receptor N-terminal
    pfam15908
    Location:537693
    HMMR_C; Hyaluronan mediated motility receptor C-terminal

RefSeqs of Annotated Genomes: GCF_000001405.40-RS_2024_08

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

Reference GRCh38.p14 Primary Assembly

Genomic

  1. NC_000005.10 Reference GRCh38.p14 Primary Assembly

    Range
    163460632..163491941
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

Alternate T2T-CHM13v2.0

Genomic

  1. NC_060929.1 Alternate T2T-CHM13v2.0

    Range
    163995809..164027111
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)