Gene: SEC16A

Basic information

Tag Content
Uniprot ID O15027; A1YCA4; J3KNL6; Q4G0D7; Q5SXP0; Q5SXP1; Q8N347; Q96HP1;
Entrez ID 9919
Genbank protein ID AAH98454.1; BAA20769.4; AAH28183.1; ABI78944.1; AAH08332.1;
Genbank nucleotide ID XM_011519257.1; NM_014866.1; XM_005266134.2; NM_001276418.1; XM_011519246.2; XM_011519247.1; XM_011519259.1; XM_011519248.2; XM_011519252.2; XM_011519260.2; XM_011519255.2;
Ensembl protein ID ENSP00000325827
Ensembl nucleotide ID ENSG00000148396
Gene name Protein transport protein Sec16A
Gene symbol SEC16A
Organism Homo sapiens
NCBI taxa ID 9606
Cleft type
Developmental stage
Data sources Manually collected
Reference 26449438
Functional description Acts as a molecular scaffold that plays a key role in the organization of the endoplasmic reticulum exit sites (ERES), also known as transitional endoplasmic reticulum (tER). SAR1A-GTP-dependent assembly of SEC16A on the ER membrane forms an organized scaffold defining an ERES. Required for secretory cargo traffic from the endoplasmic reticulum to the Golgi apparatus (PubMed:17192411, PubMed:17005010, PubMed:17428803, PubMed:21768384, PubMed:22355596). Mediates the recruitment of MIA3/TANGO to ERES (PubMed:28442536). Regulates both conventional (ER/Golgi-dependent) and GORASP2-mediated unconventional (ER/Golgi-independent) trafficking of CFTR to cell membrane (PubMed:28067262). Positively regulates the protein stability of E3 ubiquitin-protein ligases RNF152 and RNF183 and the ER localization of RNF183 (PubMed:29300766). Acts as a RAB10 effector in the regulation of insulin-induced SLC2A4/GLUT4 glucose transporter-enriched vesicles delivery to the cell membrane in adipocytes (By similarity).
Sequence
MQPPPQTVPS GMAGPPPAGN PRSVFWASSP YRRRANNNAA VAPTTCPLQP VTDPFAFSRQ 60
ALQSTPLGSS SKSSPPVLQG PAPAGFSQHP GLLVPHTHAR DSSQGPCEPL PGPLTQPRAH 120
ASPFSGALTP SAPPGPEMNR SAEVGPSSEP EVQTLPYLPH YIPGVDPETS HGGHPHGNMP 180
GLDRPLSRQN PHDGVVTPAA SPSLPQPGLQ MPGQWGPVQG GPQPSGQHRS PCPEGPVPSG 240
VPCATSVPHF PTPSILHQGP GHEQHSPLVA PPAALPSDGR DEVSHLQSGS HLANNSDPES 300
TFRQNPRIVN HWASPELRQN PGVKNEHRPA SALVNPLARG DSPENRTHHP LGAGAGSGCA 360
PLEADSGASG ALAMFFQGGE TENEENLSSE KAGLSGQADF DDFCSSPGLG RPPAPTHVGA 420
GSLCQALLPG PSNEAAGDVW GDTASTGVPD ASGSQYENVE NLEFVQNQEV LPSEPLNLDP 480
SSPSDQFRYG PLPGPAVPRH GAVCHTGAPD ATLHTVHPDS VSSSYSSRSH GRLSGSARPQ 540
ELVGTFIQQE VGKPEDEASG SFFKQIDSSP VGGETDETTV SQNYRGSVSQ PSTPSPPKPT 600
GIFQTSANSS FEPVKSHLVG VKPFEADRAN VVGEVRETCV RQKQCRPAAA LPDASPGNLE 660
QPPDNMETLC APQVCPLPLN STTEAVHMLP HAGAPPLDTV YPAPEKRPSA RTQGPVKCES 720
PATTLWAQSE LPDFGGNVLL APAAPALYVC AKPQPPVVQP PEEAMSGQQS RNPSSAAPVQ 780
SRGGIGASEN LENPPKMGEE EALQSQASSG YASLLSSPPT ESLQNPPVLI AQPDHSYNLA 840
QPINFSVSLS NSHEKNQSWR EALVGDRPAV SSWALGGDSG ENTSLSGIPT SSVLSLSLPS 900
SVAQSNFPQG SGASEMVSNQ PANLLVQPPS QPVPENLVPE SQKDRKAGSA LPGFANSPAG 960
STSVVLVPPA HGTLVPDGNK ANHSSHQEDT YGALDFTLSR TLENPVNVYN PSHSDSLASQ 1020
QSVASHPRQS GPGAPNLDRF YQQVTKDAQG QPGLERAQQE LVPPQQQASP PQLPKAMFSE 1080
LSNPESLPAQ GQAQNSAQSP ASLVLVDAGQ QLPPRPPQSS SVSLVSSGSG QAAVPSEQPW 1140
PQPVPALAPG PPPQDLAAYY YYRPLYDAYQ PQYSLPYPPE PGAASLYYQD VYSLYEPRYR 1200
PYDGAASAYA QNYRYPEPER PSSRASHSSE RPPPRQGYPE GYYSSKSGWS SQSDYYASYY 1260
SSQYDYGDPG HWDRYHYSAR VRDPRTYDRR YWCDAEYDAY RREHSAFGDR PEKRDNNWRY 1320
DPRFTGSFDD DPDPHRDPYG EEVDRRSVHS EHSARSLHSA HSLASRRSSL SSHSHQSQIY 1380
RSHNVAAGSY EAPLPPGSFH GDFAYGTYRS NFSSGPGFPE YGYPADTVWP AMEQVSSRPT 1440
SPEKFSVPHV CARFGPGGQL IKVIPNLPSE GQPALVEVHS MEALLQHTSE QEEMRAFPGP 1500
LAKDDTHKVD VINFAQNKAM KCLQNENLID KESASLLWNF IVLLCRQNGT VVGTDIAELL 1560
LRDHRTVWLP GKSPNEANLI DFTNEAVEQV EEEESGEAQL SFLTGGPAAA ASSLERETER 1620
FRELLLYGRK KDALESAMKN GLWGHALLLA SKMDSRTHAR VMTRFANSLP INDPLQTVYQ 1680
LMSGRMPAAS TCCGDEKWGD WRPHLAMVLS NLNNNMDVES RTMATMGDTL ASRGLLDAAH 1740
FCYLMAQAGF GVYTKKTTKL VLIGSNHSLP FLKFATNEAI QRTEAYEYAQ SLGAETCPLP 1800
SFQVFKFIYS CRLAEMGLAT QAFHYCEAIA KSILTQPHLY SPVLISQLVQ MASQLRLFDP 1860
QLKEKPEEES LAAPTWLVHL QQVERQIKEG AGVWHQDGAL PQQCPGTPSS EMEQLDRPGL 1920
SQPGALGIAN PLLAVPAPSP EHSSPSVRLL PSAPQTLPDG PLASPARVPM FPVPLPPGPL 1980
EPGPGCVTPG PALGFLEPSG PGLPPGVPPL QERRHLLQEA RSPDPGIVPQ EAPVGNSLSE 2040
LSEENFDGKF ANLTPSRTVP DSEAPPGWDR ADSGPTQPPL SLSPAPETKR PGQAAKKETK 2100
EPKKGESWFF RWLPGKKKTE AYLPDDKNKS IVWDEKKNQW VNLNEPEEEK KAPPPPPTSM 2160
PKTVQAAPPA LPGPPGAPVN MYSRRAAGTR ARYVDVLNPS GTQRSEPALA PADFVAPLAP 2220
LPIPSNLFVP TPDAEEPQLP DGTGREGPAA ARGLANPEPA PEPKVLSSAA SLPGSELPSS 2280
RPEGSQGGEL SRCSSMSSLS REVSQHFNQA PGDLPAAGGP PSGAMPFYNP AQLAQACATS 2340
GSSRLGRIGQ RKHLVLN 2357

Abbreviation :
CLO : cleft lip only. CPO : cleft palate only. CLP : cleft lip and palate. CL/P : cleft lip with/without cleft palate.
For humans: CL/P, CLO, CPO, and CLP. For mice: CLO, CLP, and CPO.

Gene expression information

Gene expression in different tissues (GTEx V7)