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UniProtKB - O15027 (SC16A_HUMAN)

Protein

Protein transport protein Sec16A

Gene

SEC16A

Organism
Homo sapiens (Human)
Status
Reviewed-Annotation score: -Experimental evidence at protein leveli

Functioni

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). 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).By similarity6 Publications

GO - Biological processi

View the complete GO annotation on QuickGO ...

Keywordsi

Biological processER-Golgi transport, Protein transport, Transport

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
SIGNORiO15027

Names & Taxonomyi

Protein namesi
Recommended name:
Protein transport protein Sec16A
Alternative name(s):
SEC16 homolog A
Short name:
p2501 Publication
Gene namesi
Name:SEC16A
Synonyms:KIAA0310, SEC16, SEC16L
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo
Proteomesi
  • UP000005640 Componenti: Chromosome 9

Organism-specific databases

EuPathDBiHostDB:ENSG00000148396.18
HGNCiHGNC:29006 SEC16A
MIMi612854 gene
neXtProtiNX_O15027

Subcellular locationi

Extracellular region or secreted Cytosol Plasma membrane Cytoskeleton Lysosome Endosome Peroxisome ER Golgi apparatus Nucleus Mitochondrion Manual annotation Automatic computational assertionGraphics by Christian Stolte; Source: COMPARTMENTS

Keywords - Cellular componenti

Cytoplasm, Endoplasmic reticulum, Golgi apparatus, Membrane, Microsome

Pathology & Biotechi

Organism-specific databases

DisGeNETi9919
OpenTargetsiENSG00000148396
PharmGKBiPA162402611

Polymorphism and mutation databases

BioMutaiSEC16A

PTM / Processingi

Molecule processing

Feature keyPosition(s)DescriptionActionsGraphical viewLength
ChainiPRO_00000507461 – 2357Protein transport protein Sec16AAdd BLAST2357

Amino acid modifications

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Modified residuei296PhosphoserineCombined sources1
Modified residuei314PhosphoserineCombined sources1
Modified residuei331PhosphoserineCombined sources1
Modified residuei559PhosphoserineCombined sources1
Modified residuei569PhosphoserineCombined sources1
Modified residuei587PhosphoserineCombined sources1
Modified residuei589PhosphoserineCombined sources1
Modified residuei592PhosphoserineCombined sources1
Modified residuei593PhosphothreonineCombined sources1
Modified residuei595PhosphoserineCombined sources1
Modified residuei1069PhosphoserineCombined sources1
Modified residuei1207PhosphoserineCombined sources1
Modified residuei1229PhosphoserineCombined sources1
Modified residuei1305PhosphoserineCombined sources1
Modified residuei1325PhosphothreonineCombined sources1
Modified residuei1327PhosphoserineCombined sources1
Modified residuei1347PhosphoserineCombined sources1
Modified residuei1350PhosphoserineCombined sources1
Modified residuei1356PhosphoserineCombined sources1
Modified residuei1359PhosphoserineCombined sources1
Modified residuei1362PhosphoserineCombined sources1
Modified residuei1369PhosphoserineCombined sources1
Modified residuei1573PhosphoserineCombined sources1
Modified residuei1601PhosphoserineCombined sources1
Modified residuei1907PhosphothreonineCombined sources1
Modified residuei1939PhosphoserineCombined sources1
Modified residuei1964PhosphoserineCombined sources1
Modified residuei2022PhosphoserineCombined sources1
Modified residuei2042PhosphoserineCombined sources1
Modified residuei2054PhosphothreonineCombined sources1
Modified residuei2056PhosphoserineCombined sources1
Modified residuei2073PhosphoserineCombined sources1
Modified residuei2083PhosphoserineCombined sources1
Modified residuei2271PhosphoserineCombined sources1
Modified residuei2291PhosphoserineCombined sources1

Keywords - PTMi

Phosphoprotein

Proteomic databases

EPDiO15027
MaxQBiO15027
PaxDbiO15027
PeptideAtlasiO15027
PRIDEiO15027
ProteomicsDBi48383
48384 [O15027-2]
48385 [O15027-3]
48386 [O15027-4]
48387 [O15027-5]

PTM databases

iPTMnetiO15027
PhosphoSitePlusiO15027

Expressioni

Tissue specificityi

Ubiquitous. Expressed at higher levels in the pancreas.1 Publication

Gene expression databases

BgeeiENSG00000148396 Expressed in 229 organ(s), highest expression level in adenohypophysis
CleanExiHS_SEC16A
ExpressionAtlasiO15027 baseline and differential
GenevisibleiO15027 HS

Organism-specific databases

HPAiHPA005684

Interactioni

Subunit structurei

SEC16A and SEC16B are each present in multiple copies in a heteromeric complex (PubMed:17192411). Interacts with SEC23A (PubMed:17192411, PubMed:17428803). Interacts with RNF183 and RNF152 (PubMed:29300766). Interacts with LRRK2 (via ROC domain) (PubMed:25201882). Interacts with SEC13 (PubMed:25201882, PubMed:19638414, PubMed:17428803). Interacts with RAB10 (By similarity). Interacts with MIA3 (PubMed:28442536). Interacts with GORASP2 in response to ER stress (PubMed:28067262).By similarity7 Publications

Binary interactionsi

Protein-protein interaction databases

BioGridi115247, 181 interactors
CORUMiO15027
DIPiDIP-27588N
IntActiO15027, 163 interactors
MINTiO15027
STRINGi9606.ENSP00000325827

Structurei

3D structure databases

ProteinModelPortaliO15027
SMRiO15027
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Regioni1019 – 1890Required for localization to endoplasmic reticulum exit sites1 PublicationAdd BLAST872
Regioni1101 – 1400Interaction with MIA31 PublicationAdd BLAST300
Regioni1102 – 1405Required for endoplasmic reticulum localization1 PublicationAdd BLAST304
Regioni1434 – 1890Central conserved domain (CCD); mediates interaction with RNF183, LRRK2 and SEC133 PublicationsAdd BLAST457
Regioni2106 – 2357Required for interaction with SEC23A1 PublicationAdd BLAST252

Compositional bias

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Compositional biasi1113 – 1181Pro-richAdd BLAST69
Compositional biasi1159 – 1162Poly-Tyr4
Compositional biasi1591 – 1594Poly-Glu4
Compositional biasi1931 – 2285Pro-richAdd BLAST355

Sequence similaritiesi

Belongs to the SEC16 family.Curated

Phylogenomic databases

eggNOGiKOG1913 Eukaryota
ENOG4111J6D LUCA
GeneTreeiENSGT00530000063746
HOVERGENiHBG079941
InParanoidiO15027
KOiK20353
OMAiLKKWVNK
OrthoDBiEOG091G00RM
PhylomeDBiO15027
TreeFamiTF316276

Family and domain databases

CDDicd09233 ACE1-Sec16-like, 1 hit
InterProiView protein in InterPro
IPR024298 ACE1_Sec16_Sec31
IPR024880 Sec16
IPR024340 Sec16_CCD
PfamiView protein in Pfam
PF12932 Sec16, 1 hit
PF12931 Sec16_C, 1 hit

Sequences (5+)i

Sequence statusi: Complete.

This entry describes 5 isoformsi produced by alternative splicing. AlignAdd to basket

This entry has 5 described isoforms and 4 potential isoforms that are computationally mapped.Show allAlign All

Isoform 1 (identifier: O15027-1) [UniParc]FASTAAdd to basket

This isoform has been chosen as the 'canonical' sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry.

« Hide
        10         20         30         40         50
MQPPPQTVPS GMAGPPPAGN PRSVFWASSP YRRRANNNAA VAPTTCPLQP 
        60         70         80         90        100
VTDPFAFSRQ ALQSTPLGSS SKSSPPVLQG PAPAGFSQHP GLLVPHTHAR 
       110        120        130        140        150
DSSQGPCEPL PGPLTQPRAH ASPFSGALTP SAPPGPEMNR SAEVGPSSEP 
       160        170        180        190        200
EVQTLPYLPH YIPGVDPETS HGGHPHGNMP GLDRPLSRQN PHDGVVTPAA 
       210        220        230        240        250
SPSLPQPGLQ MPGQWGPVQG GPQPSGQHRS PCPEGPVPSG VPCATSVPHF 
       260        270        280        290        300
PTPSILHQGP GHEQHSPLVA PPAALPSDGR DEVSHLQSGS HLANNSDPES 
       310        320        330        340        350
TFRQNPRIVN HWASPELRQN PGVKNEHRPA SALVNPLARG DSPENRTHHP 
       360        370        380        390        400
LGAGAGSGCA PLEADSGASG ALAMFFQGGE TENEENLSSE KAGLSGQADF 
       410        420        430        440        450
DDFCSSPGLG RPPAPTHVGA GSLCQALLPG PSNEAAGDVW GDTASTGVPD 
       460        470        480        490        500
ASGSQYENVE NLEFVQNQEV LPSEPLNLDP SSPSDQFRYG PLPGPAVPRH 
       510        520        530        540        550
GAVCHTGAPD ATLHTVHPDS VSSSYSSRSH GRLSGSARPQ ELVGTFIQQE 
       560        570        580        590        600
VGKPEDEASG SFFKQIDSSP VGGETDETTV SQNYRGSVSQ PSTPSPPKPT 
       610        620        630        640        650
GIFQTSANSS FEPVKSHLVG VKPFEADRAN VVGEVRETCV RQKQCRPAAA 
       660        670        680        690        700
LPDASPGNLE QPPDNMETLC APQVCPLPLN STTEAVHMLP HAGAPPLDTV 
       710        720        730        740        750
YPAPEKRPSA RTQGPVKCES PATTLWAQSE LPDFGGNVLL APAAPALYVC 
       760        770        780        790        800
AKPQPPVVQP PEEAMSGQQS RNPSSAAPVQ SRGGIGASEN LENPPKMGEE 
       810        820        830        840        850
EALQSQASSG YASLLSSPPT ESLQNPPVLI AQPDHSYNLA QPINFSVSLS 
       860        870        880        890        900
NSHEKNQSWR EALVGDRPAV SSWALGGDSG ENTSLSGIPT SSVLSLSLPS 
       910        920        930        940        950
SVAQSNFPQG SGASEMVSNQ PANLLVQPPS QPVPENLVPE SQKDRKAGSA 
       960        970        980        990       1000
LPGFANSPAG STSVVLVPPA HGTLVPDGNK ANHSSHQEDT YGALDFTLSR 
      1010       1020       1030       1040       1050
TLENPVNVYN PSHSDSLASQ QSVASHPRQS GPGAPNLDRF YQQVTKDAQG 
      1060       1070       1080       1090       1100
QPGLERAQQE LVPPQQQASP PQLPKAMFSE LSNPESLPAQ GQAQNSAQSP 
      1110       1120       1130       1140       1150
ASLVLVDAGQ QLPPRPPQSS SVSLVSSGSG QAAVPSEQPW PQPVPALAPG 
      1160       1170       1180       1190       1200
PPPQDLAAYY YYRPLYDAYQ PQYSLPYPPE PGAASLYYQD VYSLYEPRYR 
      1210       1220       1230       1240       1250
PYDGAASAYA QNYRYPEPER PSSRASHSSE RPPPRQGYPE GYYSSKSGWS 
      1260       1270       1280       1290       1300
SQSDYYASYY SSQYDYGDPG HWDRYHYSAR VRDPRTYDRR YWCDAEYDAY 
      1310       1320       1330       1340       1350
RREHSAFGDR PEKRDNNWRY DPRFTGSFDD DPDPHRDPYG EEVDRRSVHS 
      1360       1370       1380       1390       1400
EHSARSLHSA HSLASRRSSL SSHSHQSQIY RSHNVAAGSY EAPLPPGSFH 
      1410       1420       1430       1440       1450
GDFAYGTYRS NFSSGPGFPE YGYPADTVWP AMEQVSSRPT SPEKFSVPHV 
      1460       1470       1480       1490       1500
CARFGPGGQL IKVIPNLPSE GQPALVEVHS MEALLQHTSE QEEMRAFPGP 
      1510       1520       1530       1540       1550
LAKDDTHKVD VINFAQNKAM KCLQNENLID KESASLLWNF IVLLCRQNGT 
      1560       1570       1580       1590       1600
VVGTDIAELL LRDHRTVWLP GKSPNEANLI DFTNEAVEQV EEEESGEAQL 
      1610       1620       1630       1640       1650
SFLTGGPAAA ASSLERETER FRELLLYGRK KDALESAMKN GLWGHALLLA 
      1660       1670       1680       1690       1700
SKMDSRTHAR VMTRFANSLP INDPLQTVYQ LMSGRMPAAS TCCGDEKWGD 
      1710       1720       1730       1740       1750
WRPHLAMVLS NLNNNMDVES RTMATMGDTL ASRGLLDAAH FCYLMAQAGF 
      1760       1770       1780       1790       1800
GVYTKKTTKL VLIGSNHSLP FLKFATNEAI QRTEAYEYAQ SLGAETCPLP 
      1810       1820       1830       1840       1850
SFQVFKFIYS CRLAEMGLAT QAFHYCEAIA KSILTQPHLY SPVLISQLVQ 
      1860       1870       1880       1890       1900
MASQLRLFDP QLKEKPEEES LAAPTWLVHL QQVERQIKEG AGVWHQDGAL 
      1910       1920       1930       1940       1950
PQQCPGTPSS EMEQLDRPGL SQPGALGIAN PLLAVPAPSP EHSSPSVRLL 
      1960       1970       1980       1990       2000
PSAPQTLPDG PLASPARVPM FPVPLPPGPL EPGPGCVTPG PALGFLEPSG 
      2010       2020       2030       2040       2050
PGLPPGVPPL QERRHLLQEA RSPDPGIVPQ EAPVGNSLSE LSEENFDGKF 
      2060       2070       2080       2090       2100
ANLTPSRTVP DSEAPPGWDR ADSGPTQPPL SLSPAPETKR PGQAAKKETK 
      2110       2120       2130       2140       2150
EPKKGESWFF RWLPGKKKTE AYLPDDKNKS IVWDEKKNQW VNLNEPEEEK 
      2160       2170       2180       2190       2200
KAPPPPPTSM PKTVQAAPPA LPGPPGAPVN MYSRRAAGTR ARYVDVLNPS 
      2210       2220       2230       2240       2250
GTQRSEPALA PADFVAPLAP LPIPSNLFVP TPDAEEPQLP DGTGREGPAA 
      2260       2270       2280       2290       2300
ARGLANPEPA PEPKVLSSAA SLPGSELPSS RPEGSQGGEL SRCSSMSSLS 
      2310       2320       2330       2340       2350
REVSQHFNQA PGDLPAAGGP PSGAMPFYNP AQLAQACATS GSSRLGRIGQ 

RKHLVLN
Length:2,357
Mass (Da):251,894
Last modified:November 7, 2018 - v4
Checksum:iEAE9570BD5CD434B
GO
Isoform 2 (identifier: O15027-2) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2265-2309: Missing.

Note: No experimental confirmation available.
Show »
Length:2,312
Mass (Da):247,247
Checksum:i21A238D7B48C0C85
GO
Isoform 3 (identifier: O15027-3) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2290-2309: Missing.

Note: No experimental confirmation available.
Show »
Length:2,337
Mass (Da):249,628
Checksum:iDFDABDD30C5D717D
GO
Isoform 4 (identifier: O15027-4) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2265-2289: Missing.

Show »
Length:2,332
Mass (Da):249,512
Checksum:i321487A041AC7D9F
GO
Isoform 5 (identifier: O15027-5) [UniParc]FASTAAdd to basket

The sequence of this isoform differs from the canonical sequence as follows:
     2231-2231: T → TPVSSVRPQGRSGRNDGLLALSS

Note: No experimental confirmation available.
Show »
Length:2,379
Mass (Da):254,129
Checksum:i89093DD547B2FAA6
GO

Computationally mapped potential isoform sequencesi

There are 4 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basket
EntryEntry nameProtein names
Gene namesLengthAnnotation
F1T0I1F1T0I1_HUMAN
Protein transport protein sec16
SEC16A
2,334Annotation score:
X6RGP5X6RGP5_HUMAN
Protein transport protein sec16
SEC16A
1,059Annotation score:
A0A0C4DH09A0A0C4DH09_HUMAN
Protein transport protein Sec16A
SEC16A
751Annotation score:
Q8N9G1Q8N9G1_HUMAN
Protein transport protein Sec16A
SEC16A
385Annotation score:

Sequence cautioni

The sequence BAA20769 differs from that shown. Reason: Erroneous initiation. Translation N-terminally shortened.Curated

Experimental Info

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Sequence conflicti1277Y → A in AAH28183 (PubMed:15489334).Curated1
Sequence conflicti2279S → P in AAH28183 (PubMed:15489334).Curated1

Natural variant

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Natural variantiVAR_0233321039R → C. Corresponds to variant dbSNP:rs3812594Ensembl.1

Alternative sequence

Feature keyPosition(s)DescriptionActionsGraphical viewLength
Alternative sequenceiVSP_0360292231T → TPVSSVRPQGRSGRNDGLLA LSS in isoform 5. 1 Publication1
Alternative sequenceiVSP_0152522265 – 2309Missing in isoform 2. CuratedAdd BLAST45
Alternative sequenceiVSP_0343702265 – 2289Missing in isoform 4. 1 PublicationAdd BLAST25
Alternative sequenceiVSP_0152532290 – 2309Missing in isoform 3. 1 PublicationAdd BLAST20

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002308 mRNA Translation: BAA20769.4 Different initiation.
AL592301 Genomic DNA No translation available.
DQ903855 mRNA Translation: ABI78944.1
BC008332 mRNA Translation: AAH08332.1
BC028183 mRNA Translation: AAH28183.1
BC098454 mRNA Translation: AAH98454.1
RefSeqiNP_001263347.1, NM_001276418.1
NP_055681.1, NM_014866.1
XP_011517554.1, XM_011519252.2
UniGeneiHs.522500

Genome annotation databases

EnsembliENST00000371706; ENSP00000360771; ENSG00000148396 [O15027-2]
ENST00000431893; ENSP00000387583; ENSG00000148396 [O15027-4]
GeneIDi9919
KEGGihsa:9919
UCSCiuc064xch.1 human [O15027-1]

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Similar proteinsi

Cross-referencesi

Sequence databases

Select the link destinations:
EMBLi
GenBanki
DDBJi
Links Updated
AB002308 mRNA Translation: BAA20769.4 Different initiation.
AL592301 Genomic DNA No translation available.
DQ903855 mRNA Translation: ABI78944.1
BC008332 mRNA Translation: AAH08332.1
BC028183 mRNA Translation: AAH28183.1
BC098454 mRNA Translation: AAH98454.1
RefSeqiNP_001263347.1, NM_001276418.1
NP_055681.1, NM_014866.1
XP_011517554.1, XM_011519252.2
UniGeneiHs.522500

3D structure databases

ProteinModelPortaliO15027
SMRiO15027
ModBaseiSearch...
MobiDBiSearch...

Protein-protein interaction databases

BioGridi115247, 181 interactors
CORUMiO15027
DIPiDIP-27588N
IntActiO15027, 163 interactors
MINTiO15027
STRINGi9606.ENSP00000325827

PTM databases

iPTMnetiO15027
PhosphoSitePlusiO15027

Polymorphism and mutation databases

BioMutaiSEC16A

Proteomic databases

EPDiO15027
MaxQBiO15027
PaxDbiO15027
PeptideAtlasiO15027
PRIDEiO15027
ProteomicsDBi48383
48384 [O15027-2]
48385 [O15027-3]
48386 [O15027-4]
48387 [O15027-5]

Protocols and materials databases

Structural Biology KnowledgebaseSearch...

Genome annotation databases

EnsembliENST00000371706; ENSP00000360771; ENSG00000148396 [O15027-2]
ENST00000431893; ENSP00000387583; ENSG00000148396 [O15027-4]
GeneIDi9919
KEGGihsa:9919
UCSCiuc064xch.1 human [O15027-1]

Organism-specific databases

CTDi9919
DisGeNETi9919
EuPathDBiHostDB:ENSG00000148396.18
GeneCardsiSEC16A
H-InvDBiHIX0169092
HGNCiHGNC:29006 SEC16A
HPAiHPA005684
MIMi612854 gene
neXtProtiNX_O15027
OpenTargetsiENSG00000148396
PharmGKBiPA162402611
HUGEiSearch...
GenAtlasiSearch...

Phylogenomic databases

eggNOGiKOG1913 Eukaryota
ENOG4111J6D LUCA
GeneTreeiENSGT00530000063746
HOVERGENiHBG079941
InParanoidiO15027
KOiK20353
OMAiLKKWVNK
OrthoDBiEOG091G00RM
PhylomeDBiO15027
TreeFamiTF316276

Enzyme and pathway databases

ReactomeiR-HSA-204005 COPII-mediated vesicle transport
SIGNORiO15027

Miscellaneous databases

ChiTaRSiSEC16A human
GeneWikiiSEC16A
GenomeRNAii9919
PROiPR:O15027
SOURCEiSearch...

Gene expression databases

BgeeiENSG00000148396 Expressed in 229 organ(s), highest expression level in adenohypophysis
CleanExiHS_SEC16A
ExpressionAtlasiO15027 baseline and differential
GenevisibleiO15027 HS

Family and domain databases

CDDicd09233 ACE1-Sec16-like, 1 hit
InterProiView protein in InterPro
IPR024298 ACE1_Sec16_Sec31
IPR024880 Sec16
IPR024340 Sec16_CCD
PfamiView protein in Pfam
PF12932 Sec16, 1 hit
PF12931 Sec16_C, 1 hit
ProtoNetiSearch...

Entry informationi

Entry nameiSC16A_HUMAN
AccessioniPrimary (citable) accession number: O15027
Secondary accession number(s): A1YCA4
, J3KNL6, Q4G0D7, Q5SXP0, Q5SXP1, Q8N347, Q96HP1
Entry historyiIntegrated into UniProtKB/Swiss-Prot: July 15, 1998
Last sequence update: November 7, 2018
Last modified: November 7, 2018
This is version 162 of the entry and version 4 of the sequence. See complete history.
Entry statusiReviewed (UniProtKB/Swiss-Prot)
Annotation programChordata Protein Annotation Program
DisclaimerAny medical or genetic information present in this entry is provided for research, educational and informational purposes only. It is not in any way intended to be used as a substitute for professional medical advice, diagnosis, treatment or care.

Miscellaneousi

Keywords - Technical termi

Complete proteome, Reference proteome

Documents

  1. SIMILARITY comments
    Index of protein domains and families
  2. Human entries with polymorphisms or disease mutations
    List of human entries with polymorphisms or disease mutations
  3. Human polymorphisms and disease mutations
    Index of human polymorphisms and disease mutations
  4. MIM cross-references
    Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot
  5. Human chromosome 9
    Human chromosome 9: entries, gene names and cross-references to MIM
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