Gene Gene information from NCBI Gene database.
Entrez ID 23033
Gene name DOP1 leucine zipper like protein A
Gene symbol DOP1A
Synonyms (NCBI Gene)
DOP1DOPEY1KIAA1117dJ202D23.2
Chromosome 6
Chromosome location 6q14.1
Gene ontology (GO) Gene Ontology (GO) annotations describing the biological processes, molecular functions, and cellular components associated with a gene.
9
GO ID Ontology Definition Evidence Reference
GO:0000139 Component Golgi membrane IEA
GO:0005768 Component Endosome IBA
GO:0005794 Component Golgi apparatus IEA
GO:0005798 Component Golgi-associated vesicle IEA
GO:0005802 Component Trans-Golgi network IBA
Other IDs Other IDs provides unique identifiers for this gene in OMIM, HGNC, and Ensembl databases.
MIM HGNC e!Ensembl
616823 21194 ENSG00000083097
Protein Protein information from UniProt database.
UniProt ID Unique identifier for the protein in the UniProt database. Click to view detailed protein information.
Q5JWR5
Protein name Protein DOP1A
Protein function May be involved in protein traffic between late Golgi and early endosomes.
Family and domains

Pfam

Accession ID Position in sequence Description Type
PF04118 Dopey_N 11 297 Dopey, N-terminal Family
Sequence
MNTEELELLSDSKYRNYVAAIDKALKNFEYSSEWADLISALGKLNKVLQNNAKYQVVPKK
LTIGKRLAQCLHPALPGGVHRKALETYEIIFKIIGPKRLAKDLFLYSSGLFPLLANAAMS
VKPTLLSLYEIYYLPLGKTLKPGLQGLLTGILPGLEEGSEYYERTNMLLEKVAAAVDQSA
FYSALWGSLLTSPAVRLPGITYVLAHLNRKLSMEDQLYIIGSDIELMVEAVSTSVQDSSV
LVQRSTLDLILFCFPFHMSQATRPDMIRILSAALHVVLRRDMSLNRRLYAWLLGFDN
NGA
IIGPRSTRHSNPEEHATYYFTTFSKELLVQAMVGILQVNGFGEENTLMQDLKPFRILISL
LDKPELGPVILEDVLIEVFRTLYSQCKAELDLQTEPPFSKDHAQLSSKLRENKKTAELIK
TANLLFNSFEPYYMWDYVARWFEECCRRTLHVRLQIGPGDSNDSSELQLTNFCLLVDFLL
DIVSLPTRSMRVLCQETYIEIQTEHLPQLLLRMISALTSHLQTLHLSELTDSLRLCSKIL
SKVQPPLLSASTGGVLQFPSGQNNSVKEWEDKKVSSVSHENPTEVFEDGENPPSSRSSES
GFTEFIQYQADRTDDIDRELSEGQGAAAIPIGSTSSETETASTVGSEETIIQTPSVVTQG
TATRSRKTAQKTAMQCCLEYVQQFLTRLINLYIIQNNSFSQSLATEHQGDLGREQGETSK
WDRNSQGDVKEKNISKQKTSKEYLSAFLAACQLFLECSSFPVYIAEGNHTSELRSEKLET
DCEHVQPPQWLQTLMNACSQASDFSVQSVAISLVMDLVGLTQSVAMVTGENINSVEPAQP
LSPNQGRVAVVIRPPLTQGNLRYIAEKTEFFKHVALTLWDQLGDGTPQHHQKSVELFYQL
HNLVPSSSICEDVISQQLTHKDKKIRMEAHAKFAVLWHLTRDLHINKSSSFVRSFDRSLF
IMLDSLNSLDGSTSSVGQAWLNQVLQRHDIARVLEPLLLLLLHPKTQRVSVQRVQAERYW
NKSPCYPGEESDKHFMQNFACSNVSQVQLITSKGNGEKPLTMDEIENFSLTVNPLSDRLS
LLSTSSETIPMVVSDFDLPDQQIEILQSSDSGCSQSSAGDNLSYEVDPETVNAQEDSQMP
KESSPDDDVQQVVFDLICKVVSGLEVESASVTSQLEIEAMPPKCSDIDPDEETIKIEDDS
IQQSQNALLSNESSQFLSVSAEGGHECVANGISRNSSSPCISGTTHTLHDSSVASIETKS
RQRSHSSIQFSFKEKLSEKVSEKETIVKESGKQPGAKPKVKLARKKDDDKKKSSNEKLKQ
TSVFFSDGLDLENWYSCGEGDISEIESDMGSPGSRKSPNFNIHPLYQHVLLYLQLYDSSR
TLYAFSAIKAILKTNPIAFVNAISTTSVNNAYTPQLSLLQNLLARHRISVMGKDFYSHIP
VDSNHNFRSSMYIEILISLCLYYMRSHYPTHVKVTAQDLIGNRNMQMMSIEILTLLFTEL
AKVIESSAKGFPSFISDMLSKCKVQKVILHCLLSSIFSAQKWHSEKMAGKNLVAVEEGFS
EDSLINFSEDEFDNGSTLQSQLLKVLQRLIVLEHRVMTIPEENETGFDFVVSDLEHISPH
QPMTSLQYLHAQPITCQGMFLCAVIRALHQHCACKMHPQWIGLITSTLPYMGKVLQRVVV
SVTLQLCRNLDNLIQQYKYETGLSDSRPLWMASIIPPDMILTLLEGITAIIHYCLLDPTT
QYHQLLVSVDQKHLFEARSGILSILHMIMSSVTLLWSILHQADSSEKMTIAASASLTTIN
LGATKNLRQQILELLGPISMNHGVHFMAAIAFVWNERRQNKTTTRTKVIPAASEEQLLLV
ELVRSISVMRAETVIQTVKEVLKQPPAIAKDKKHLSLEVCMLQFFYAYIQRIPVPNLVDS
WASLLILLKDSIQLSLPAPGQFLILGVLNEFIMKNPSLENKKDQRDLQDVTHKIVDAIGA
IAGSSLEQTTWLRRNLEVKPSPKIMVDGTNLESDVEDMLSPAMETANITPSVYSVHALTL
LSEVLAHLLDMVFYSDEKERVIPLLVNIMHYVVPYLRNHSAHNAPSYRACVQLLSSLSGY
QYTRRAWKKEAFDLFMDPSFFQMDASCVNHWRAIMDNLMTHDKTTFRDLMTRVAVAQSSS
LNLFANRDVELEQRAMLLKRLAFAIFSSEIDQYQKYLPDIQERLVESLRLPQVPTLHSQV
FLFFRVLLLRMSPQHLTSLWPTMITELVQVFLLMEQELTADEDISRTSGPSVAGLETTYT
GGNGFSTSYNSQRWLNLYLSACKFLDLALALPSENLPQFQMYRWAFIPEASDDSGLEVRR
QGIHQREFKPYVVRLAKLLRKRAKKNPEEDNSGRTLGWEPGHLLLTICTVRSMEQLLPFF
NVLSQVFNSKVTSRCGGHSGSPILYSNAFPNKDMKLENHKPCSSKARQKIEEMVEKDFLE
GMIKT
Sequence length 2465
Interactions View interactions
Associated diseases Disease associations from ClinVar (causal & non-causal) and other databases (OMIM, Orphanet, GWAS, etc.).
5
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.
Phenotype Name Clinical Significance Source Evidence Score
COMPLEX NEURODEVELOPMENTAL DISORDER GenCC
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
IMMUNODEFICIENCY 23 Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
NON-SPECIFIC SYNDROMIC INTELLECTUAL DISABILITY Disgenet
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
SCHIZOPHRENIA GWAS catalog
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Associations from Text Mining Disease associations identified through text mining
Disease Name Disease (Merged) Source PMID Relationship Type Evidence Score
Breast Carcinoma Breast Carcinoma BEFREE 25424701
★☆☆☆☆
Found in Text Mining only
Breast Neoplasms Breast neoplasm Pubtator 25424701 Associate
★☆☆☆☆
Found in Text Mining only
IMMUNODEFICIENCY 23 Immunodeficiency CLINVAR_DG
★★☆☆☆
Found in Text Mining + Unknown/Other Associations
Malignant neoplasm of breast Breast Cancer BEFREE 25424701
★☆☆☆☆
Found in Text Mining only
Malignant neoplasm of breast Breast Cancer UNIPROT_DG
★☆☆☆☆
Found in Text Mining only
Malignant Neoplasms Malignant Neoplasm BEFREE 25424701
★☆☆☆☆
Found in Text Mining only
Schizophrenia Schizophrenia GWASCAT_DG 26198764
★★☆☆☆
Found in Text Mining + Unknown/Other Associations