MALRD1 (MAM and LDL receptor class A domain containing 1)

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Gene Gene information from NCBI Gene database.
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Entrez ID 340895
Gene name MAM and LDL receptor class A domain containing 1
Gene symbol MALRD1
Synonyms (NCBI Gene)
C10orf112DIET1bA265G8.2
Chromosome 10
Chromosome location 10p12.31
Summary This gene encodes a conserved protein that features multiple MAM (meprin-A5-protein tyrosine phosphatase mu) and LDLR A2 (low density lipoprotein receptor A2) domains. Expression of this gene is enriched in the small intestine and is upregulated during di
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
8 Show/Hide all (8)
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GO ID Ontology Definition Evidence Reference
GO:0005737 Component Cytoplasm IEA
GO:0005794 Component Golgi apparatus IBA
GO:0005794 Component Golgi apparatus IDA
GO:0016020 Component Membrane IEA
GO:0030659 Component Cytoplasmic vesicle membrane IEA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
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MIM HGNC e!Ensembl
617715 24331 ENSG00000204740
Protein Protein information from UniProt database.
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UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5VYJ5
Protein name MAM and LDL-receptor class A domain-containing protein 1
Protein function Enhances production and/or transport of FGF19 and thus has a role in regulation of bile acid synthesis.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF00008 EGF 2022 → 2055 EGF-like domain Domain
PF00057 Ldl_recept_a 432 → 470 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1682 → 1719 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1901 → 1938 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1945 → 1981 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1262 → 1300 Low-density lipoprotein receptor domain class A Repeat
PF00057 Ldl_recept_a 1048 → 1085 Low-density lipoprotein receptor domain class A Repeat
PF00629 MAM 865 → 1023 MAM domain, meprin/A5/mu Domain
PF00629 MAM 1307 → 1464 MAM domain, meprin/A5/mu Domain
PF00629 MAM 1521 → 1675 MAM domain, meprin/A5/mu Domain
PF00629 MAM 1729 → 1891 MAM domain, meprin/A5/mu Domain
PF00629 MAM 654 → 815 MAM domain, meprin/A5/mu Domain
PF00629 MAM 1090 → 1255 MAM domain, meprin/A5/mu Domain
PF00629 MAM 476 → 636 MAM domain, meprin/A5/mu Domain
PF00629 MAM 73 → 228 MAM domain, meprin/A5/mu Domain
PF00629 MAM 270 → 426 MAM domain, meprin/A5/mu Domain
Tissue specificity TISSUE SPECIFICITY: Strongly expressed in the small intestine. {ECO:0000269|PubMed:23747249}.
Sequence 
MLFFLDRMLAFPMNETFCCLWIACVFNSTLAQQGTESFQCDNGVSLPPDSICDFTDQCGD
SSDERHCLNYERCDFEDGLCHMTQDQSLQPSWTKRSGMIGLSPPFYDHNGDVSAHFLSLV
SRVDSISSSLRSRVFLPTNDQHDCQITFYYFSCQVSGKLMVGLQTACGGPIQHLWQNTAA
LPNQWERNVIKIQSSQRFQVVFEGQMASTYEQDEVIAIDDISFSSGCLPANDGILLCQEA
LNAERELCHPDTDLCRFDATDEELRLCQACGFEFDMCEWTSEASAGQISWMRTKAREIPA
FESTPQQDQGGDDEGYYVWVGAKHGFTLNHLDSRAYLNSSVCHCLGKSCHLQFYYAMESS
VLRVRLYNNKEEEIFWTYNISTHSQWVKADVLIPEDLKTFKIIFEGTLLSQRSFIALDHL
WVYACGQTQSRKLCSADEFPCTSGQCIAKESVCDSRQDCSDESDEDPATCSKHLTCDFES
GFCGWEPFLTEDSHWKLMKGLNNGEHHFPAADHTANINHGSFIYLEAQRSPGVAKLGSPV
LTKLLTASTPCQVQFWYHLSQHSNLSVFTRTSLDGNLQKQGKIIRFSESQWSHAKIDLIA
EAGESTLPFQLILEATVLSSNATVALDDISVSQECEISYKSLPRTSTQSKFSKCDFEANS
CDWFEAISGDHFDWIRSSQSELSADFEHQAPPRDHSLNASQGHFMFILKKSSSLWQVAKL
QSPTFSQTGPGCILSFWFYNYGLSVGAAELQLHMENSHDSTVIWRVLYNQGKQWLEATIQ
LGRLSQPFHLSLDKVSLGIYDGVSAIDDIRFENCTLPLPAESCEGLDHFWCRHTRACIEK
LRLCDLVDDCGDRTDEVNCAPELQCNFETGICNWEQDAKDDFDWTRSQGPTPTLNTGPMK
DNTLGTAKGHYLYIESSEPQAFQDSAALLSPILNATDTKGCTFRFYYHMFGKRIYRLAIY
QRIWSDSRGQLLWQIFGNQGNRWIRKHLNISSRQPFQILVEASVGDGFTGDIAIDDLSFM
DCTLYPGNLPADLPTPPETSVPVTLPPHNCTDNEFICRSDGHCIEKMQKCDFKYDCPDKS
DEASCVMEVCSFEKRSLCKWYQPIPVHLLQDSNTFRWGLGNGISIHHGEENHRPSVDHTQ
NTTDGWYLYADSSNGKFGDTADILTPIISLTGPKCTLVFWTHMNGATVGSLQVLIKKDNV
TSKLWAQTGQQGAQWKRAEVFLGIRSHTQIVFRAKRGISYIGDVAVDDISFQDCSPLLSP
ERKCTDHEFMCANKHCIAKDKLCDFVNDCADNSDETTFICRTSSGRCDFEFDLCSWKQEK
DEDFDWNLKASSIPAAGTEPAADHTLGNSSGHYIFIKSLFPQQPMRAARISSPVISKRSK
NCKIIFHYHMYGNGIGALTLMQVSVTNQTKVLLNLTVEQGNFWRREELSLFGDEDFQLKF
EGRVGKGQRGDIALDDIVLTENCLSLHDSVQEELAVPLPTGFCPLGYRECHNGKCYRLEQ
SCNFVDNCGDNTDENECGSSCTFEKGWCGWQNSQADNFDWVLGVGSHQSLRPPKDHTLGN
ENGHFMYLEATAVGLRGDKAHFRSTMWRESSAACTMSFWYFVSAKATGSIQILIKTEKGL
SKVWQESKQNPGNHWQKADILLGKLRNFEVIFQGIRTRDLGGGAAIDDIEFKNCTTVGEI
SELCPEITDFLCRDKKCIASHLLCDYKPDCSDRSDEAHCAHYTSTTGSCNFETSSGNWTT
ACSLTQDSEDDLDWAIGSRIPAKALIPDSDHTPGSGQHFLYVNSSGSKEGSVARITTSKS
FPASLGMCTVRFWFYMIDPRSMGILKVYTIEESGLNILVWSVIGNKRTGWTYGSVPLSSN
SPFKVAFEADLDGNEDIFIALDDISFTPECVTGGPVPVQPSPCEADQFSCIYTLQCVPLS
GKCDGHEDCIDGSDEMDCPLSPTPPLCSNMEFPCSTDECIPSLLLCDGVPDCHFNEDELI
CSNKSCSNGALVCASSNSCIPAHQRCDGFADCMDFQLDESSCSECPLNYCRNGGTCVVEK
NGPMCRCRQGWKGNRCHIKFNPPATDFTYAQNNTWTLLGIGLAFLMTHITVAVLCFLANR
KVPIRKTEGSGNCAFVNPVYGNWSNPEKTESSVYSFSNPLYGTTSGSLETLSHHLK
Sequence length 2156
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
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Evidence Score: ★☆☆☆☆  Gene-disease association found in Text Mining only ★★☆☆☆  Found in Text Mining and Unknown/Other Associations ★★★☆☆  Reported in Unknown/Other Associations across ≥2 Sources ★★★★☆  ClinVar: Pathogenic/Likely Pathogenic (<5 Variants) ★★★★★  ClinVar: Pathogenic/Likely Pathogenic (≥5 Variants)
Unknown / Other Associations ClinVar entries with uncertain/conflicting evidence, and associations from other databases (OMIM, Orphanet, GWAS, etc.) where the gene is not established as causal.
Show/Hide Unknown Diseases (13)
Phenotype Name Clinical Significance Source Reference Evidence Score
AMBLYOPIA — GWAS catalog 30098192
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
ANKYLOSING SPONDYLITIS — GWAS catalog 20062062
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLOR VISION DISORDER — GWAS catalog 37359372
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
COLORECTAL CANCER — GWAS catalog 26621817
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
CORONARY ARTERY DISEASE — GWAS catalog 29695241
★★★★★
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Show/Hide Text Mining Associations (7)
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Alopecia Areata Alopecia Areata GWASDB_DG 22027810
★★★★★
★☆☆☆☆
Found in Text Mining only
Alzheimer Disease Alzheimer disease Pubtator 19103277 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
Carcinoma of lung Lung carcinoma GWASCAT_DG 29924316
★★★★★
★☆☆☆☆
Found in Text Mining only
Diabetic Retinopathy Diabetic Retinopathy BEFREE 29739359
★★★★★
★☆☆☆☆
Found in Text Mining only
Endometriosis Endometriosis Pubtator 25083881 Associate
★★★★★
★☆☆☆☆
Found in Text Mining only
PIGMENTARY DISORDER, RETICULATE, WITH SYSTEMIC MANIFESTATIONS Pigmentary Disorder, Reticulate, With Systemic Manifestations BEFREE 29739359
★★★★★
★☆☆☆☆
Found in Text Mining only
Vitamin D Deficiency Vitamin D Deficiency BEFREE 28702373
★★★★★
★☆☆☆☆
Found in Text Mining only
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CACNA2D3 2 shared diseasesEndometrial neoplasms, Obsessive-compulsive disorder 2 shared evidence sourcesGWAS catalog (Endometrial neoplasms), GWAS catalog (Obsessive-compulsive disorder) Related via 2 shared diseases including Endometrial neoplasms, Obsessive-compulsive disorder — evidence mostly GWAS catalog. SFMBT1 2 shared diseasesHyperuricemia, Obsessive-compulsive disorder 2 shared evidence sourcesGWAS catalog (Hyperuricemia), GWAS catalog (Obsessive-compulsive disorder) Related via 2 shared diseases including Hyperuricemia, Obsessive-compulsive disorder — evidence mostly GWAS catalog. NPAS3 2 shared diseasesEndometrial neoplasms, Obsessive-compulsive disorder 3 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Endometrial neoplasms), GWAS catalog (Obsessive-compulsive disorder) Related via 2 shared diseases including Endometrial neoplasms, Obsessive-compulsive disorder — evidence mostly GWAS catalog. MARK2 2 shared diseasesHyperuricemia, Obsessive-compulsive disorder 1 shared evidence sourceGWAS catalog (Hyperuricemia) Related via 2 shared diseases including Hyperuricemia, Obsessive-compulsive disorder — evidence mostly GWAS catalog. LSM14A 1 shared diseaseObsessive-compulsive disorder 2 shared evidence sourcesGWAS catalog (Ankylosing spondylitis), GWAS catalog (Obsessive-compulsive disorder) Related via 1 shared disease including Obsessive-compulsive disorder — evidence mostly GWAS catalog.
Major depressive disorder Linked via 4 of 5 related genesCACNA2D3, SFMBT1, NPAS3, MARK2 Schizophrenia Linked via 4 of 5 related genesCACNA2D3, SFMBT1, NPAS3, MARK2 Alzheimer disease Linked via 3 of 5 related genesCACNA2D3, NPAS3, MARK2 Attention deficit hyperactivity disorder Linked via 3 of 5 related genesCACNA2D3, NPAS3, MARK2 Bipolar disorder Linked via 3 of 5 related genesCACNA2D3, NPAS3, MARK2