• Gene id: 9919

Gene Summary

• Gene Symbol: SEC16A   Gene   UCSC   Ensembl
• Aliases: KIAA0310, SEC16L, p250
• Gene name: SEC16 homolog A, endoplasmic reticulum export factor
• Alternate names: protein transport protein Sec16A, protein SEC16 homolog A,
• Gene location: 9q34.3 (136484551: 136440095)     Exons: 37     NC_000009.12
• Gene summary(Entrez): This gene encodes a protein that forms part of the Sec16 complex. This protein has a role in protein transport from the endoplasmic reticulum (ER) to the Golgi and mediates COPII vesicle formation at the transitional ER. Alternative splicing results in mu
• OMIM: 612854

Protein Summary

• Protein general information: O15027  
  • Name: Protein transport protein Sec16A (SEC16 homolog A) (p250)
  • Length: 2357  
  • Mass: 251894
  • Tissue specificity: Ubiquitous. Expressed at higher levels in the pancreas. {ECO
• Sequence:

  MQPPPQTVPSGMAGPPPAGNPRSVFWASSPYRRRANNNAAVAPTTCPLQPVTDPFAFSRQALQSTPLGSSSKSSP
  PVLQGPAPAGFSQHPGLLVPHTHARDSSQGPCEPLPGPLTQPRAHASPFSGALTPSAPPGPEMNRSAEVGPSSEP
  EVQTLPYLPHYIPGVDPETSHGGHPHGNMPGLDRPLSRQNPHDGVVTPAASPSLPQPGLQMPGQWGPVQGGPQPS
  GQHRSPCPEGPVPSGVPCATSVPHFPTPSILHQGPGHEQHSPLVAPPAALPSDGRDEVSHLQSGSHLANNSDPES
  TFRQNPRIVNHWASPELRQNPGVKNEHRPASALVNPLARGDSPENRTHHPLGAGAGSGCAPLEADSGASGALAMF
  FQGGETENEENLSSEKAGLSGQADFDDFCSSPGLGRPPAPTHVGAGSLCQALLPGPSNEAAGDVWGDTASTGVPD
  ASGSQYENVENLEFVQNQEVLPSEPLNLDPSSPSDQFRYGPLPGPAVPRHGAVCHTGAPDATLHTVHPDSVSSSY
  SSRSHGRLSGSARPQELVGTFIQQEVGKPEDEASGSFFKQIDSSPVGGETDETTVSQNYRGSVSQPSTPSPPKPT
  GIFQTSANSSFEPVKSHLVGVKPFEADRANVVGEVRETCVRQKQCRPAAALPDASPGNLEQPPDNMETLCAPQVC
  PLPLNSTTEAVHMLPHAGAPPLDTVYPAPEKRPSARTQGPVKCESPATTLWAQSELPDFGGNVLLAPAAPALYVC
  AKPQPPVVQPPEEAMSGQQSRNPSSAAPVQSRGGIGASENLENPPKMGEEEALQSQASSGYASLLSSPPTESLQN
  PPVLIAQPDHSYNLAQPINFSVSLSNSHEKNQSWREALVGDRPAVSSWALGGDSGENTSLSGIPTSSVLSLSLPS
  SVAQSNFPQGSGASEMVSNQPANLLVQPPSQPVPENLVPESQKDRKAGSALPGFANSPAGSTSVVLVPPAHGTLV
  PDGNKANHSSHQEDTYGALDFTLSRTLENPVNVYNPSHSDSLASQQSVASHPRQSGPGAPNLDRFYQQVTKDAQG
  QPGLERAQQELVPPQQQASPPQLPKAMFSELSNPESLPAQGQAQNSAQSPASLVLVDAGQQLPPRPPQSSSVSLV
  SSGSGQAAVPSEQPWPQPVPALAPGPPPQDLAAYYYYRPLYDAYQPQYSLPYPPEPGAASLYYQDVYSLYEPRYR
  PYDGAASAYAQNYRYPEPERPSSRASHSSERPPPRQGYPEGYYSSKSGWSSQSDYYASYYSSQYDYGDPGHWDRY
  HYSARVRDPRTYDRRYWCDAEYDAYRREHSAFGDRPEKRDNNWRYDPRFTGSFDDDPDPHRDPYGEEVDRRSVHS
  EHSARSLHSAHSLASRRSSLSSHSHQSQIYRSHNVAAGSYEAPLPPGSFHGDFAYGTYRSNFSSGPGFPEYGYPA
  DTVWPAMEQVSSRPTSPEKFSVPHVCARFGPGGQLIKVIPNLPSEGQPALVEVHSMEALLQHTSEQEEMRAFPGP
  LAKDDTHKVDVINFAQNKAMKCLQNENLIDKESASLLWNFIVLLCRQNGTVVGTDIAELLLRDHRTVWLPGKSPN
  EANLIDFTNEAVEQVEEEESGEAQLSFLTGGPAAAASSLERETERFRELLLYGRKKDALESAMKNGLWGHALLLA
  SKMDSRTHARVMTRFANSLPINDPLQTVYQLMSGRMPAASTCCGDEKWGDWRPHLAMVLSNLNNNMDVESRTMAT
  MGDTLASRGLLDAAHFCYLMAQAGFGVYTKKTTKLVLIGSNHSLPFLKFATNEAIQRTEAYEYAQSLGAETCPLP
  SFQVFKFIYSCRLAEMGLATQAFHYCEAIAKSILTQPHLYSPVLISQLVQMASQLRLFDPQLKEKPEEESLAAPT
  WLVHLQQVERQIKEGAGVWHQDGALPQQCPGTPSSEMEQLDRPGLSQPGALGIANPLLAVPAPSPEHSSPSVRLL
  PSAPQTLPDGPLASPARVPMFPVPLPPGPLEPGPGCVTPGPALGFLEPSGPGLPPGVPPLQERRHLLQEARSPDP
  GIVPQEAPVGNSLSELSEENFDGKFANLTPSRTVPDSEAPPGWDRADSGPTQPPLSLSPAPETKRPGQAAKKETK
  EPKKGESWFFRWLPGKKKTEAYLPDDKNKSIVWDEKKNQWVNLNEPEEEKKAPPPPPTSMPKTVQAAPPALPGPP
  GAPVNMYSRRAAGTRARYVDVLNPSGTQRSEPALAPADFVAPLAPLPIPSNLFVPTPDAEEPQLPDGTGREGPAA
  ARGLANPEPAPEPKVLSSAASLPGSELPSSRPEGSQGGELSRCSSMSSLSREVSQHFNQAPGDLPAAGGPPSGAM
  PFYNPAQLAQACATSGSSRLGRIGQRKHLVLN

• Structural information:
  • Interpro: IPR024298  IPR024880  IPR024340  
  • CDD: cd09233
  • DIP: 27588
  • STRING: ENSP00000325827
• Other Databases: GeneCards:  SEC16A  Malacards:  SEC16A

Gene ontology

GO accession	Term name	Evidence code	Go category
GO:0070973	protein localization to endoplasmic reticulum exit site	IBA	biological process
GO:0048208	COPII vesicle coating	IBA	biological process
GO:0012507	ER to Golgi transport vesicle membrane	IBA	cellular component
GO:0070971	endoplasmic reticulum exit site	IBA	cellular component
GO:0070863	positive regulation of protein exit from endoplasmic reticulum	IBA	biological process
GO:0007030	Golgi organization	IBA	biological process
GO:0007029	endoplasmic reticulum organization	IBA	biological process
GO:0005789	endoplasmic reticulum membrane	IDA	cellular component
GO:0005829	cytosol	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0031090	organelle membrane	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0070971	endoplasmic reticulum exit site	IDA	cellular component
GO:0034976	response to endoplasmic reticulum stress	IDA	biological process
GO:0048471	perinuclear region of cytoplasm	ISS	cellular component
GO:0072659	protein localization to plasma membrane	ISS	biological process
GO:0050821	protein stabilization	IMP	biological process
GO:0070973	protein localization to endoplasmic reticulum exit site	IMP	biological process
GO:0043000	Golgi to plasma membrane CFTR protein transport	IMP	biological process
GO:0032527	protein exit from endoplasmic reticulum	ISS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0007029	endoplasmic reticulum organization	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0006888	endoplasmic reticulum to Golgi vesicle-mediated transport	IMP	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048208	COPII vesicle coating	IEA	biological process
GO:0005794	Golgi apparatus	IEA	cellular component
GO:0016192	vesicle-mediated transport	IEA	biological process
GO:0043231	intracellular membrane-bounded organelle	IEA	cellular component
GO:0005783	endoplasmic reticulum	IEA	cellular component
GO:0015031	protein transport	IEA	biological process
GO:0016020	membrane	IEA	cellular component
GO:0005737	cytoplasm	IEA	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0005829	cytosol	TAS	cellular component
GO:0048208	COPII vesicle coating	TAS	biological process
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0005515	protein binding	IPI	molecular function
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0072659	protein localization to plasma membrane	IEA	biological process
GO:0007029	endoplasmic reticulum organization	IEA	biological process
GO:0032527	protein exit from endoplasmic reticulum	IEA	biological process
GO:0070971	endoplasmic reticulum exit site	IEA	cellular component
GO:0048471	perinuclear region of cytoplasm	IEA	cellular component
GO:0005829	cytosol	IEA	cellular component
GO:0000139	Golgi membrane	IEA	cellular component
GO:0005789	endoplasmic reticulum membrane	IEA	cellular component
GO:0031090	organelle membrane	IEA	cellular component
GO:0005783	endoplasmic reticulum	IDA	cellular component
GO:0005794	Golgi apparatus	IDA	cellular component
GO:0007029	endoplasmic reticulum organization	IDA	biological process
GO:0005829	cytosol	IDA	cellular component
GO:0021762	substantia nigra development	HEP	biological process

Diseases

Associated diseases	References
Cryptorchidism	MIK: 28606200
Teratozoospermia	MIK: 17327269

PubMed references

PMID	Condition	Mutation	Ethnicity	Population details	Infertility_type	Associated_genes
17327269	Teratozoospermia			13 (5 controls, 8 cases)	Male infertility	GSE6967 analyzed by GEO2R (cutoff 1.5 fold)
17327269	Teratozoospermia			19 (6 controls, 13 cases)	Male infertility	GSE6872 analyzed by GEO2R (cutoff 1.5 fold)
28606200	Cryptorchidism			Monozgotic twins (1 control, I cwith cryptorchidism)	Male infertility	MeDIP-Seq