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    LDLRAD4 low density lipoprotein receptor class A domain containing 4 [ Homo sapiens (human) ]

    Gene ID: 753, updated on 26-Jun-2015
    Official Symbol
    LDLRAD4provided by HGNC
    Official Full Name
    low density lipoprotein receptor class A domain containing 4provided by HGNC
    Primary source
    HGNC:HGNC:1224
    See related
    Ensembl:ENSG00000168675; HPRD:07358; MIM:606571; Vega:OTTHUMG00000181925
    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
    C18orf1
    Orthologs
    See LDLRAD4 in Epigenomics, MapViewer
    Location:
    18p11.21
    Exon count:
    14
    Annotation release Status Assembly Chr Location
    107 current GRCh38.p2 (GCF_000001405.28) 18 NC_000018.10 (13218730..13652754)
    105 previous assembly GRCh37.p13 (GCF_000001405.25) 18 NC_000018.9 (13218729..13652753)

    Chromosome 18 - NC_000018.10Genomic Context describing neighboring genes Neighboring gene WD repeat domain 89 pseudogene Neighboring gene mRNA turnover 4 homolog (S. cerevisiae) pseudogene Neighboring gene LDLRAD4 antisense RNA 1 Neighboring gene uncharacterized LOC102724634 Neighboring gene microRNA 5190 Neighboring gene uncharacterized LOC105371999 Neighboring gene uncharacterized LOC102724615 Neighboring gene microRNA 4526 Neighboring gene family with sequence similarity 210, member A Neighboring gene RNA (guanine-7-) methyltransferase

    GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

    NHGRI GWAS Catalog

    Description
    Genome-wide association study of survival in patients with pancreatic adenocarcinoma.
    NHGRI GWA Catalog

    Markers

    Homology

    Preferred Names
    low-density lipoprotein receptor class A domain-containing protein 4
    Names
    low-density lipoprotein receptor class A domain-containing protein 4
    clone 22

    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_001003674.3NP_001003674.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform gamma 1

      See identical proteins and their annotated locations for NP_001003674.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (c1) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a1. The encoded isoform (gamma 1) is shorter and has a distinct N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009426, AI668861, AI878844, AK055028, AP001010, DA321390, DA391326, DA412541, HY309264
      Consensus CDS
      CCDS32795.1
      UniProtKB/Swiss-Prot
      O15165
    2. NM_001003675.3NP_001003675.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform gamma 2

      See identical proteins and their annotated locations for NP_001003675.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (c2) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, initiates translation at an alternate start codon, and lacks an alternate in-frame exon in the central coding region, compared to variant a1. The encoded isoform (gamma 2) is shorter and has a distinct N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009424, AI878844, AP001010, BC047093, BC066971, BM991627, BX114947, DA126127, DA246476, DA276009, HY115972
      Consensus CDS
      CCDS42415.1
      UniProtKB/Swiss-Prot
      O15165
    3. NM_001276249.1NP_001263178.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform delta 1

      See identical proteins and their annotated locations for NP_001263178.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (d1) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at a downstream in-frame start codon, compared to variant a1. The encoded isoform (delta 1) is shorter at the N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009426, AI878844, AK291574, AP001010, BC030199, BC066971, BM715555, BM805426, DA418068, DC327672, DC328561
      Consensus CDS
      CCDS62392.1
      UniProtKB/TrEMBL
      A8K6A9
      UniProtKB/Swiss-Prot
      O15165
    4. NM_001276251.1NP_001263180.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform epsilon 1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (e1) contains an alternate 5' terminal exon, differs in its 5' UTR, lacks a portion of the 5' coding region, and initiates translation at an alternate start codon, compared to variant a1. The encoded isoform (epsilon 1) is shorter and has a distinct N-terminus, compared to isoform alpha 1.
      Source sequence(s)
      AF009424, AI878844, AP001010, BC029958, BC066971, HY309264, N63974
      Consensus CDS
      CCDS62393.1
      UniProtKB/Swiss-Prot
      O15165
    5. NM_181481.4NP_852146.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 1

      See identical proteins and their annotated locations for NP_852146.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (a1) encodes the longest isoform (alpha 1).
      Source sequence(s)
      AF009424, AP001010, AP002439
      Consensus CDS
      CCDS32793.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000352420, OTTHUMP00000267910, ENST00000359446, OTTHUMT00000458326
      Conserved Domains (1) summary
      cd00112
      Location:1647
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    6. NM_181482.4NP_852147.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform alpha 2

      See identical proteins and their annotated locations for NP_852147.1

      Status: VALIDATED

      Description
      Transcript Variant: This variant (a2) differs in its 5' UTR and lacks an alternate in-frame exon in the central coding region, compared to variant a1, resulting in an isoform (alpha 2) that is shorter than isoform alpha 1.
      Source sequence(s)
      AF009424, AI878844, AP001010, BC030199, BM715555, DB107684, DB272592
      Consensus CDS
      CCDS32794.1
      UniProtKB/Swiss-Prot
      O15165
      Related
      ENSP00000382741, OTTHUMP00000267909, ENST00000399848, OTTHUMT00000458325
      Conserved Domains (1) summary
      cd00112
      Location:1647
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...

    RefSeqs of Annotated Genomes: Homo sapiens Annotation Release 107

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

    Reference GRCh38.p2 Primary Assembly

    Genomic

    1. NC_000018.10 Reference GRCh38.p2 Primary Assembly

      Range
      13218730..13652754
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    mRNA and Protein(s)

    1. XM_006722353.1XP_006722416.1  

      See identical proteins and their annotated locations for XP_006722416.1

      UniProtKB/Swiss-Prot
      O15165
      Conserved Domains (1) summary
      cd00112
      Location:1647
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    2. XM_005258140.1XP_005258197.1  

      See identical proteins and their annotated locations for XP_005258197.1

      UniProtKB/Swiss-Prot
      O15165
      Conserved Domains (1) summary
      cd00112
      Location:1647
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    3. XM_011525738.1XP_011524040.1  

      See identical proteins and their annotated locations for XP_011524040.1

    4. XM_011525737.1XP_011524039.1  

    5. XM_006722354.1XP_006722417.1  

      See identical proteins and their annotated locations for XP_006722417.1

      UniProtKB/Swiss-Prot
      O15165
      Conserved Domains (1) summary
      cd00112
      Location:1647
      LDLa; Low Density Lipoprotein Receptor Class A domain, a cysteine-rich repeat that plays a central role in mammalian cholesterol metabolism; the receptor protein binds LDL and transports it into cells by endocytosis; 7 successive cysteine-rich repeats of about ...
    6. XM_011525739.1XP_011524041.1  

      See identical proteins and their annotated locations for XP_011524041.1

    7. XM_011525740.1XP_011524042.1  

    Alternate CHM1_1.1

    Genomic

    1. NC_018929.2 Alternate CHM1_1.1

      Range
      13218367..13652114
      Download
      GenBank, FASTA, Sequence Viewer (Graphics)

    Suppressed Reference Sequence(s)

    The following Reference Sequences have been suppressed. Explain

    1. NM_004338.3: Suppressed sequence

      Description
      NM_004338.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.
    2. NM_181483.3: Suppressed sequence

      Description
      NM_181483.3: This RefSeq was permanently suppressed because currently there is insufficient support for the transcript and the protein.