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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
    Try the new Gene table
    Try the new Transcript table

    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: Tissue-specific circular RNA induction during human fetal development
    • Description: 35 human fetal samples from 6 tissues (3 - 7 replicates per tissue) collected between 10 and 20 weeks gestational time were sequenced using Illumina TruSeq Stranded Total RNA
    • BioProject: PRJNA270632
    • Publication: PMID 26076956
    • Analysis date: Mon Apr 2 22:54:59 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)

    NEW Try the new Transcript table

    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)