MYCBPAP (MYCBP associated protein)

Gene

• Entrez ID: 84073
• Gene name: MYCBP associated protein
• Gene symbol: MYCBPAP
• Synonyms (NCBI Gene): AMAP-1, AMAP1
• Chromosome: 17
• Chromosome location: 17q21.33

Gene ontology (GO)

GO ID	Ontology	Definition	Evidence	Reference
GO:0005515	Function	Protein binding	IPI	12151104, 12223483
GO:0005543	Function	Phospholipid binding	IBA
GO:0005737	Component	Cytoplasm	IDA	12151104
GO:0005737	Component	Cytoplasm	IEA
GO:0005768	Component	Endosome	IBA
GO:0005886	Component	Plasma membrane	IBA
GO:0006897	Process	Endocytosis	IBA
GO:0007268	Process	Chemical synaptic transmission	ISS
GO:0007283	Process	Spermatogenesis	IEA
GO:0007283	Process	Spermatogenesis	IEP	12151104
GO:0016020	Component	Membrane	IEA
GO:0030125	Component	Clathrin vesicle coat	IBA
GO:0030154	Process	Cell differentiation	IEA
GO:0030276	Function	Clathrin binding	IBA
GO:0045202	Component	Synapse	IEA

Other IDs

• MIM: 609835
• HGNC: 19677
• e!Ensembl: ENSG00000136449

Protein

• UniProt ID: Q8TBZ2
• Protein name: MYCBP-associated protein (AMAM-1) (AMY-1-binding protein 1) (AMAP-1)
• Protein function: May play a role in spermatogenesis. May be involved in synaptic processes (By similarity).
• Family and domains:

  Pfam

  Accession	ID	Position in sequence	Description	Type
  PF14646	MYCBPAP	199 → 618	MYCBP-associated protein family	Family

• Tissue specificity: TISSUE SPECIFICITY: Expressed specifically in testis. {ECO:0000269|PubMed:12151104}.
• Sequence:

  MVPGGTMKSLKKDSRLRITPTRLLEASENVKEKKRAKGPEQPTPTIQEEPEPVSNVLQGD
  DILALAIKKEDLKEQHIPRLTEKEDKRVITQKFIIRKLKPMDPRRKVCHLVARPANPDEA
  TKPLDYSGPGDSFDGSDQILPHHILGSLQDFKRIALARGNTQLAERIPTSPCLMTLISAE
  GESKQKAPKEEKRPPWAPPPQHNFLKNWQRNTALRKKQQEALSEHLKKPVSELLMHTGET
  YRRIQEERELIDCTLPTRRDRKSWENSGFWSRLEYLGDEMTGLVMTKTKTQRGLMEPITH
  IRKPHSIRVETGLPAQRDASYRYTWDRSLFLIYRRKELQRIMEELDFSQQDIDGLEVVGK
  GWPFSAVTVEDYTVFERSQGSSSEDTAYLGTLASSSDVSMPILGPSLLFCGKPACWIRGS
  NPQDKRQVGIAAHLTFETLEGEKTSSELTVVNNGTVAIWYDWRRQHQPDTFQDLKKNRMQ
  RFYFDNREGVILPGEIKTFTFFFKSLTAGVFREFWEFRTHPTLLGGAILQVNLHAVSLTQ
  DVFEDERKVLESKLTAHEAVTVVREVLQELLMGVLTPERTPSPVDAYLTEEDLFRHRNPP
  LHYEHQVVQSLHQLWRQYMTLPAKAEEARPGDKEHVSPIATEKASVNAELLPRFRSPISE
  TQVPRPENEALRESGSQKARVGTKSPQRKSIMEEILVEESPDVDSTKSPWEPDGLPLLEW
  NLCLEDFRKAVMVLPDENHREDALMRLNKAALELCQKPRPLQSNLLHQMCLQLWRDVIDS
  LVGHSMWLRSVLGLPEKETIYLNVPEEQDQKSPPIMEVKVPVGKAGKEERKGAAQEKKQL
  GIKDKEDKKGAKLLGKEDRPNSKKHKAKDDKKVIKSASQDRFSLEDPTPDIILSSQEPID
  PLVMGKYTQSLHSEVRGLLDTLVTDLMVLADELSPIKNVEEALRLCR

• Sequence length: 947

Associated diseases

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
Phenotype Name	Clinical Significance	Source	Evidence Score
SPERMATOGENIC FAILURE	—	GenCC	★★☆☆☆ Found in Text Mining + Unknown/Other Associations

Associations from Text Mining
Disease Name	Disease (Merged)	Source	PMID	Relationship Type	Evidence Score
Breast Carcinoma	Breast Carcinoma	BEFREE	15719014, 21858086, 27871329, 28834540		★☆☆☆☆ Found in Text Mining only
Breast Neoplasms	Breast neoplasm	Pubtator	24116160, 27871329	Associate	★☆☆☆☆ Found in Text Mining only
Carcinoma Pancreatic Ductal	Pancreatic ductal carcinoma	Pubtator	31399545, 32580737	Associate	★☆☆☆☆ Found in Text Mining only
Head and Neck Carcinoma	Head And Neck Carcinoma	BEFREE	27880014		★☆☆☆☆ Found in Text Mining only
Kidney Neoplasms	Kidney neoplasm	Pubtator	27871329	Associate	★☆☆☆☆ Found in Text Mining only
Malignant Head and Neck Neoplasm	Head and neck cancer	BEFREE	27880014		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of breast	Breast Cancer	BEFREE	15719014, 21858086, 27871329, 28834540		★☆☆☆☆ Found in Text Mining only
Malignant neoplasm of pancreas	Pancreatic cancer	BEFREE	31399545		★☆☆☆☆ Found in Text Mining only
Malignant Neoplasms	Malignant Neoplasm	BEFREE	15719014, 16904307, 19416474, 21858086, 22734003, 27871329, 29329590, 31399545		★☆☆☆☆ Found in Text Mining only
Neoplasms	Neoplasms	BEFREE	16904307		★☆☆☆☆ Found in Text Mining only
Pancreatic carcinoma	Pancreatic carcinoma	BEFREE	31399545		★☆☆☆☆ Found in Text Mining only
Pancreatic Neoplasms	Pancreatic neoplasm	Pubtator	31399545, 32580737	Associate	★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of the head and neck	Carcinoma Of The Head And Neck	BEFREE	24621372		★☆☆☆☆ Found in Text Mining only
Squamous cell carcinoma of tongue	Tongue carcinoma	BEFREE	27871329		★☆☆☆☆ Found in Text Mining only