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

Gene ID: 753, updated on 24-Aug-2018

Summary

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 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
Expression
Ubiquitous expression in brain (RPKM 2.9), prostate (RPKM 1.4) and 24 other tissues See more
Orthologs

Genomic context

See LDLRAD4 in Genome Data Viewer
Location:
18p11.21
Exon count:
31
Annotation release Status Assembly Chr Location
109 current GRCh38.p12 (GCF_000001405.38) 18 NC_000018.10 (13217604..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 MRT4 homolog, ribosome maturation factor pseudogene Neighboring gene chromosome 18 open reading frame 15 (putative) Neighboring gene LDLRAD4 antisense RNA 1 Neighboring gene uncharacterized LOC107985120 Neighboring gene microRNA 5190 Neighboring gene uncharacterized LOC102724615 Neighboring gene microRNA 4526 Neighboring gene family with sequence similarity 210 member A Neighboring gene RNA, 7SL, cytoplasmic 362, pseudogene Neighboring gene RNA guanine-7 methyltransferase

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 Jun 15 11:32:44 2016

Bibliography

GeneRIFs: Gene References Into FunctionsWhat's a GeneRIF?

Interactions

Products Interactant Other Gene Complex Source Pubs Description

General gene information

Markers

Homology

Gene Ontology Provided by GOA

Function Evidence Code Pubs
R-SMAD binding IPI
Inferred from Physical Interaction
more info
PubMed 
Component Evidence Code Pubs
early endosome membrane IEA
Inferred from Electronic Annotation
more info
 
integral component of membrane NAS
Non-traceable Author Statement
more info
PubMed 
intracellular membrane-bounded organelle IDA
Inferred from Direct Assay
more info
 
nucleoplasm IDA
Inferred from Direct Assay
more info
 

General protein information

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

NCBI Reference Sequences (RefSeq)

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
    Related
    ENSP00000466178.1, OTTHUMP00000267913, ENST00000587757.5, OTTHUMT00000458333
  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
    Related
    ENSP00000474783.1, OTTHUMP00000273133, ENST00000586765.1, OTTHUMT00000458336
  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/Swiss-Prot
    O15165
    UniProtKB/TrEMBL
    A8K6A9
    Related
    ENSP00000466772.1, OTTHUMP00000267914, ENST00000585931.5, OTTHUMT00000458334
  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
    Related
    ENSP00000466771.1, OTTHUMP00000267917, ENST00000592991.1, OTTHUMT00000458340
  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
    ENSP00000352420.5, OTTHUMP00000267910, ENST00000359446.9, 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
    ENSP00000382741.2, OTTHUMP00000267909, ENST00000399848.7, 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 109 details...Open this link in a new tab

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

Reference GRCh38.p12 Primary Assembly

Genomic

  1. NC_000018.10 Reference GRCh38.p12 Primary Assembly

    Range
    13217604..13652754
    Download
    GenBank, FASTA, Sequence Viewer (Graphics)

mRNA and Protein(s)

  1. XM_024451253.1XP_024307021.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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_024451260.1XP_024307028.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X6

  3. XM_024451259.1XP_024307027.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X3

    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 ...
  4. XM_017025964.1XP_016881453.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

    Conserved Domains (1) summary
    cl21455
    Location:127185
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  5. XM_024451249.1XP_024307017.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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_017025963.2XP_016881452.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

    Conserved Domains (1) summary
    cl21455
    Location:127185
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  7. XM_024451250.1XP_024307018.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  8. XM_006722353.1XP_006722416.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  9. XM_017025965.1XP_016881454.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  10. XM_017025966.1XP_016881455.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  11. XM_017025967.1XP_016881456.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  12. XM_017025968.1XP_016881457.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  13. XM_005258140.1XP_005258197.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  14. XM_017025961.1XP_016881450.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X2

  15. XM_017025962.1XP_016881451.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X4

  16. XM_011525738.1XP_011524040.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    See identical proteins and their annotated locations for XP_011524040.1

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  17. XM_011525737.1XP_011524039.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X5

  18. XM_024451254.1XP_024307022.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  19. XM_024451256.1XP_024307024.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  20. XM_024451252.1XP_024307020.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  21. XM_024451248.1XP_024307016.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  22. XM_024451251.1XP_024307019.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  23. XM_024451255.1XP_024307023.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  24. XM_024451257.1XP_024307025.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  25. XM_024451258.1XP_024307026.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  26. XM_006722354.1XP_006722417.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X1

    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 ...
  27. XM_017025970.1XP_016881459.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  28. XM_017025969.1XP_016881458.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  29. XM_017025971.1XP_016881460.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X7

    UniProtKB/Swiss-Prot
    O15165
    Conserved Domains (1) summary
    cl21455
    Location:97155
    P-loop_NTPase; P-loop containing Nucleoside Triphosphate Hydrolases
  30. XM_017025972.1XP_016881461.1  low-density lipoprotein receptor class A domain-containing protein 4 isoform X8

RNA

  1. XR_001753277.1 RNA Sequence

  2. XR_001753278.1 RNA Sequence

  3. XR_001753275.1 RNA Sequence

  4. XR_001753272.1 RNA Sequence

  5. XR_001753276.1 RNA Sequence

  6. XR_001753273.1 RNA Sequence

  7. XR_001753274.1 RNA Sequence

  8. XR_001753267.1 RNA Sequence

  9. XR_001753268.1 RNA Sequence

  10. XR_001753269.1 RNA Sequence

  11. XR_001753271.1 RNA Sequence

  12. XR_001753270.1 RNA Sequence

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.
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