Seroatlas · Human Serome Atlas

LDLRAP1

Low density lipoprotein receptor adapter protein 1

Also known as: ARH, ARH_HUMAN, ARH2, DKFZp586D0624, FHCB1, FHCB2, MGC34705

Cross-references: UniProt · Ensembl · Human Protein Atlas · GeneCards · NCBI Gene

Protein identityUniProt · HPA

UniProt accession: Q5SW96
Gene: LDLRAP1
Ensembl: ENSG00000157978
Chromosome: 1
Canonical length: 308 aa
Protein class: Disease related genes, Human disease related genes, Predicted intracellular proteins
Subcellular location: Microtubules

OverviewNCBI Gene

The protein encoded by this gene is a cytosolic protein which contains a phosphotyrosine binding (PTD) domain. The PTD domain has been found to interact with the cytoplasmic tail of the LDL receptor. Mutations in this gene lead to LDL receptor malfunction and cause the disorder autosomal recessive hypercholesterolaemia. [provided by RefSeq, Jul 2008]

Canonical amino-acid sequenceUniProt

308 residues, UniProt reviewed canonical sequence.

>Q5SW96|LDLRAP1
     1  MDALKSAGRA LIRSPSLAKQ SWGGGGRHRK LPENWTDTRE TLLEGMLFSL KYLGMTLVEQ
    61  PKGEELSAAA IKRIVATAKA SGKKLQKVTL KVSPRGIILT DNLTNQLIEN VSIYRISYCT
   121  ADKMHDKVFA YIAQSQHNQS LECHAFLCTK RKMAQAVTLT VAQAFKVAFE FWQVSKEEKE
   181  KRDKASQEGG DVLGARQDCT PSLKSLVATG NLLDLEETAK APLSTVSANT TNMDEVPRPQ
   241  ALSGSSVVWE LDDGLDEAFS RLAQSRTNPQ VLDTGLTAQD MHYAQCLSPV DWDKPDSSGT
   301  EQDDLFSF

LocalizationUniProt · AlphaFold · HPA

Whether an antibody against LDLRAP1 can act on the native protein depends on physical access: surface and secreted proteins are reachable by circulating antibodies, intracellular proteins usually are not.

Antibody reachability: Intracellular
Secreted: No
Transmembrane segments: 0
Mean surface accessibility (rSASA): 0.45
Highest tissue expression: 80 nTPM

Expression across tissuesHPA

Tissue

cerebellum: 80 nTPM
spinal cord: 63 nTPM
spleen: 56 nTPM
pancreas: 37 nTPM
lymph node: 35 nTPM
salivary gland: 29 nTPM

Single-cell type

platelets: 537 nCPM
megakaryocytes: 87 nCPM
oligodendrocytes: 69 nCPM
respiratory basal cells: 61 nCPM
choroid plexus epithelial cells: 57 nCPM
salivary duct cells: 52 nCPM

Immune cell

naive CD4 T-cell: 108 nTPM
naive CD8 T-cell: 90 nTPM
memory CD4 T-cell: 55 nTPM
total PBMC: 51 nTPM
T-reg: 50 nTPM
memory CD8 T-cell: 43 nTPM

Brain region

white matter: 60 nTPM
medulla oblongata: 47 nTPM
cerebellum: 41 nTPM
pons: 38 nTPM
choroid plexus: 36 nTPM
midbrain: 34 nTPM

DiseaseUniProt · ClinVar · IEDB · PubMed

Four sources answering four different questions about LDLRAP1.

Disease | AllUniProt

Conditions LDLRAP1 is implicated in, by any mechanism.

Hypercholesterolemia, familial, 4 (FHCL4) MIM:603813

Disease | GeneticClinVar

70 pathogenic / likely-pathogenic of 675 ClinVar records.

Conditions with pathogenic or likely-pathogenic variants.

Hypercholesterolemia, familial, 4
Familial hypercholesterolemia
Cardiovascular phenotype
Autosomal recessive inheritance
See cases

Genetic constraint and essentialitygnomAD · DepMap

Does the body need this protein intact? Low LOEUF or a strong DepMap dependency means loss or blockade of the protein is likely to be felt.

gnomAD LOEUF (loss-of-function intolerance): 1.16
gnomAD pLI: 0
gnomAD missense Z: -0.2
DepMap mean gene effect: 0
DepMap dependency class: selective

Cancer expressionTCGA

Across TCGA tumor cohorts, this protein is over-expressed in roughly 4% of surveyed tumor types (aggregate summary; per-cohort expression, alteration, and survival load in the interactive view).

OntologyGO

Biological processes

Molecular functions

Cellular components

Protein domainsUniProt · Pfam · InterPro

KeywordsUniProt

InteractionsUniProt · HPA

Protein binding partners of LDLRAP1 in the human serome: UniProt-annotated complex subunits plus reported interactors. Each links to its own Seroatlas record.

Antibody and autoantibody relevanceSeroatlas analysis

Seroatlas reads LDLRAP1 as an antibody target. Whether an autoantibody or antibody against LDLRAP1 could matter depends on whether native LDLRAP1 is physically reachable, whether the body needs it intact, and whether it acts in a disease-relevant tissue.

LDLRAP1 is annotated as predominantly intracellular. Intracellular proteins are common autoantibody markers, becoming visible to the immune system after cell injury or altered processing, but are usually markers of disease rather than direct drivers.

Annotation status

The present source text does not explicitly label LDLRAP1 as an autoantigen. Seroatlas presents hypothesis context only and does not manufacture a known-serology claim.

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