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

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

    Summary

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    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
    mouse all
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    Genomic context

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    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

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    Go to nucleotide: Graphics FASTA GenBank

    Expression

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    • 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

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    Related articles in PubMed

    1. In situ RHAMM protein expression in acute myeloid leukemia blasts suggests poor overall survival. Tzankov A, et al. Ann Hematol, 2011 Aug. PMID 21274712
    2. Chronic myeloid leukemia cells express tumor-associated antigens eliciting specific CD8+ T-cell responses and are lacking costimulatory molecules. Schmitt M, et al. Exp Hematol, 2006 Dec. PMID 17157168
    3. Hyaluronan cable formation by ocular trabecular meshwork cells. Sun YY, et al. Exp Eye Res, 2015 Oct. PMID 26247678, Free PMC Article
    4. Hyaluronan-mediated motility receptor expression functions as a prognostic biomarker in uterine carcinosarcoma based on bioinformatics analysis. Sun H, et al. J Int Med Res, 2021 Jun. PMID 34111996, Free PMC Article
    5. RHAMM in liver metastases of stage IV colorectal cancer with mismatch-repair proficient status correlates with tumor budding, cytotoxic T-cells and PD-1/PD-L1. Burren S, et al. Pathol Res Pract, 2021 Jul. PMID 34051513

    See all (171) citations in PubMed

    GeneRIFs: Gene References Into Functions

    What's a GeneRIF?
    1. Coupled scRNA-seq and Bulk-seq reveal the role of HMMR in hepatocellular carcinoma.
      Title: Coupled scRNA-seq and Bulk-seq reveal the role of HMMR in hepatocellular carcinoma.
    2. Targeting hyaluronan-mediated motility receptor (HMMR) enhances response to androgen receptor signalling inhibitors in prostate cancer.
      Title: Targeting hyaluronan-mediated motility receptor (HMMR) enhances response to androgen receptor signalling inhibitors in prostate cancer.
    3. RHAMM marks proliferative subpopulation of human colorectal cancer stem cells.
      Title: RHAMM marks proliferative subpopulation of human colorectal cancer stem cells.
    4. Receptor for hyaluronan-mediated motility (RHAMM) defines an invasive niche associated with tumor progression and predicts poor outcomes in breast cancer patients.
      Title: Receptor for hyaluronan-mediated motility (RHAMM) defines an invasive niche associated with tumor progression and predicts poor outcomes in breast cancer patients.
    5. Tumor-promoting roles of HMMR in lung adenocarcinoma.
      Title: Tumor-promoting roles of HMMR in lung adenocarcinoma.
    6. The importance of RHAMM in the normal brain and gliomas: physiological and pathological roles.
      Title: The importance of RHAMM in the normal brain and gliomas: physiological and pathological roles.
    7. RHAMM expression tunes the response of breast cancer cell lines to hyaluronan.
      Title: RHAMM expression tunes the response of breast cancer cell lines to hyaluronan.
    8. Oleate acid-stimulated HMMR expression by CEBPalpha is associated with nonalcoholic steatohepatitis and hepatocellular carcinoma.
      Title: Oleate acid-stimulated HMMR expression by CEBPα is associated with nonalcoholic steatohepatitis and hepatocellular carcinoma.
    9. Identification of hub genes associated with prognosis, diagnosis, immune infiltration and therapeutic drug in liver cancer by integrated analysis.
      Title: Identification of hub genes associated with prognosis, diagnosis, immune infiltration and therapeutic drug in liver cancer by integrated analysis.
    10. HMMR is a downstream target of FOXM1 in enhancing proliferation and partial epithelial-to-mesenchymal transition of bladder cancer cells.
      Title: HMMR is a downstream target of FOXM1 in enhancing proliferation and partial epithelial-to-mesenchymal transition of bladder cancer cells.
    Submit: New GeneRIF Correction See all GeneRIFs (83)

    Phenotypes

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    Find tests for this gene in the NIH Genetic Testing Registry (GTR)

    Review eQTL and phenotype association data in this region using PheGenI

    Variation

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    See variants in ClinVar

    See studies and variants in dbVar

    See Variation Viewer (GRCh37.p13)

    See Variation Viewer (GRCh38)

    Pathways from PubChem

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    Interactions

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    Products Interactant Other Gene Complex Source Pubs Description

    General gene information

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    Markers

    Homology

    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

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    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_001142556.2 → NP_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:77 → 145
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam15905
      Location:16 → 339
      HMMR_N; Hyaluronan mediated motility receptor N-terminal
      pfam15908
      Location:553 → 709
      HMMR_C; Hyaluronan mediated motility receptor C-terminal

    2. NM_001142557.2 → NP_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:14 → 58
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam15905
      Location:5 → 252
      HMMR_N; Hyaluronan mediated motility receptor N-terminal
      pfam15908
      Location:466 → 622
      HMMR_C; Hyaluronan mediated motility receptor C-terminal

    3. NM_012484.3 → NP_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:218 → 576
      Smc; Chromosome segregation ATPase [Cell cycle control, cell division, chromosome partitioning]
      pfam15905
      Location:16 → 338
      HMMR_N; Hyaluronan mediated motility receptor N-terminal
      pfam15908
      Location:552 → 708
      HMMR_C; Hyaluronan mediated motility receptor C-terminal

    4. NM_012485.3 → NP_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:85 → 129
      V_ATPase_I; V-type ATPase 116kDa subunit family
      pfam15905
      Location:16 → 323
      HMMR_N; Hyaluronan mediated motility receptor N-terminal
      pfam15908
      Location:537 → 693
      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)
    Nucleotide Protein
    Heading Accession and Version
    Protein Accession Links
    GenPept Link UniProtKB Link
    O75330.2 GenPept UniProtKB/Swiss-Prot:O75330

    Gene LinkOut

    The following LinkOut resources are supplied by external providers. These providers are responsible for maintaining the links.

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