| 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.