UniProtKB - Q99758 (ABCA3_HUMAN)
Protein
ATP-binding cassette sub-family A member 3
Gene
ABCA3
Organism
Homo sapiens (Human)
Status
Functioni
Plays an important role in the formation of pulmonary surfactant, probably by transporting lipids such as cholesterol.
Regions
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Nucleotide bindingi | 566 – 573 | ATP 1PROSITE-ProRule annotation | 8 | |
Nucleotide bindingi | 1416 – 1423 | ATP 2PROSITE-ProRule annotation | 8 |
GO - Molecular functioni
- ATPase activity Source: InterPro
- ATPase-coupled transmembrane transporter activity Source: GO_Central
- ATP binding Source: UniProtKB-KW
- lipid transporter activity Source: GO_Central
GO - Biological processi
- cellular protein metabolic process Source: Reactome
- lipid transport Source: GO_Central
- response to drug Source: ProtInc
- response to glucocorticoid Source: Ensembl
- transmembrane transport Source: Reactome
Keywordsi
Biological process | Transport |
Ligand | ATP-binding, Nucleotide-binding |
Enzyme and pathway databases
PathwayCommonsi | Q99758 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-5683678, Defective ABCA3 causes SMDP3 R-HSA-5683826, Surfactant metabolism R-HSA-5688399, Defective ABCA3 causes SMDP3 |
SIGNORi | Q99758 |
Protein family/group databases
TCDBi | 3.A.1.211.5, the atp-binding cassette (abc) superfamily |
Names & Taxonomyi
Protein namesi | Recommended name: ATP-binding cassette sub-family A member 3Alternative name(s): ABC-C transporter ATP-binding cassette transporter 3 Short name: ATP-binding cassette 3 |
Gene namesi | Name:ABCA3 Synonyms:ABC3 |
Organismi | Homo sapiens (Human) |
Taxonomic identifieri | 9606 [NCBI] |
Taxonomic lineagei | Eukaryota › Metazoa › Chordata › Craniata › Vertebrata › Euteleostomi › Mammalia › Eutheria › Euarchontoglires › Primates › Haplorrhini › Catarrhini › Hominidae › Homo |
Proteomesi |
|
Organism-specific databases
HGNCi | HGNC:33, ABCA3 |
MIMi | 601615, gene |
neXtProti | NX_Q99758 |
VEuPathDBi | HostDB:ENSG00000167972.13 |
Subcellular locationi
Other locations
- Membrane Curated; Multi-pass membrane protein Curated
Extracellular region or secreted
- extracellular space Source: UniProtKB
Plasma Membrane
- plasma membrane Source: ARUK-UCL
Other locations
- alveolar lamellar body Source: MGI
- alveolar lamellar body membrane Source: Ensembl
- integral component of membrane Source: UniProtKB-KW
- intracellular membrane-bounded organelle Source: GO_Central
- lamellar body membrane Source: Reactome
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Transmembranei | 22 – 42 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 261 – 283 | HelicalSequence analysisAdd BLAST | 23 | |
Transmembranei | 307 – 327 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 344 – 364 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 373 – 393 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 405 – 425 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 447 – 467 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 925 – 945 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1100 – 1120 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1144 – 1164 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1183 – 1203 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1213 – 1233 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1245 – 1265 | HelicalSequence analysisAdd BLAST | 21 | |
Transmembranei | 1306 – 1326 | HelicalSequence analysisAdd BLAST | 21 |
Keywords - Cellular componenti
MembranePathology & Biotechi
Involvement in diseasei
Pulmonary surfactant metabolism dysfunction 3 (SMDP3)1 Publication
The disease is caused by variants affecting the gene represented in this entry.
Disease descriptionA rare lung disorder due to impaired surfactant homeostasis. It is characterized by alveolar filling with floccular material that stains positive using the periodic acid-Schiff method and is derived from surfactant phospholipids and protein components. Excessive lipoproteins accumulation in the alveoli results in severe respiratory distress.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023497 | 101 | L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909182EnsemblClinVar. | 1 | |
Natural variantiVAR_023498 | 568 | N → D in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909184EnsemblClinVar. | 1 | |
Natural variantiVAR_023499 | 1553 | L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909183EnsemblClinVar. | 1 | |
Natural variantiVAR_023500 | 1591 | Q → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs28936691EnsemblClinVar. | 1 |
Keywords - Diseasei
Disease variantOrganism-specific databases
DisGeNETi | 21 |
MalaCardsi | ABCA3 |
MIMi | 610921, phenotype |
OpenTargetsi | ENSG00000167972 |
Orphaneti | 2032, Idiopathic pulmonary fibrosis 70587, Infant acute respiratory distress syndrome 440402, Interstitial lung disease due to ABCA3 deficiency |
PharmGKBi | PA24378 |
Miscellaneous databases
Pharosi | Q99758, Tbio |
Chemistry databases
DrugBanki | DB00619, Imatinib |
Genetic variation databases
BioMutai | ABCA3 |
DMDMi | 85700402 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000093293 | 1 – 1704 | ATP-binding cassette sub-family A member 3Add BLAST | 1704 |
Proteomic databases
jPOSTi | Q99758 |
MassIVEi | Q99758 |
MaxQBi | Q99758 |
PaxDbi | Q99758 |
PeptideAtlasi | Q99758 |
PRIDEi | Q99758 |
ProteomicsDBi | 66998 78463 [Q99758-1] |
PTM databases
iPTMneti | Q99758 |
PhosphoSitePlusi | Q99758 |
Expressioni
Tissue specificityi
Highly expressed in lung, followed by brain, pancreas, skeletal muscle and heart. Weakly expressed in placenta, kidney and liver. Also expressed in medullary thyroid carcinoma cells (MTC) and in C-cell carcinoma.
Gene expression databases
Bgeei | ENSG00000167972, Expressed in right lung and 191 other tissues |
ExpressionAtlasi | Q99758, baseline and differential |
Genevisiblei | Q99758, HS |
Organism-specific databases
HPAi | ENSG00000167972, Tissue enhanced (brain, lung) |
Interactioni
Protein-protein interaction databases
BioGRIDi | 106539, 33 interactors |
IntActi | Q99758, 20 interactors |
MINTi | Q99758 |
STRINGi | 9606.ENSP00000301732 |
Miscellaneous databases
RNActi | Q99758, protein |
Family & Domainsi
Domains and Repeats
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Domaini | 530 – 763 | ABC transporter 1PROSITE-ProRule annotationAdd BLAST | 234 | |
Domaini | 1381 – 1614 | ABC transporter 2PROSITE-ProRule annotationAdd BLAST | 234 |
Domaini
Multifunctional polypeptide with two homologous halves, each containing a hydrophobic membrane-anchoring domain and an ATP binding cassette (ABC) domain.By similarity
Sequence similaritiesi
Keywords - Domaini
Repeat, Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000155289 |
HOGENOMi | CLU_113155_0_0_1 |
InParanoidi | Q99758 |
OMAi | QFDAMDQ |
PhylomeDBi | Q99758 |
TreeFami | TF105191 |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR026082, ABCA IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 1 hit |
Pfami | View protein in Pfam PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 2 hits |
s (2+)i Sequence
Sequence statusi: Complete.
This entry describes 2 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 2 described isoforms and 1 potential isoform that is computationally mapped.Show allAlign All
Isoform 1 (identifier: Q99758-1) [UniParc]FASTAAdd to basket
This isoform has been chosen as the sequence. All positional information in this entry refers to it. This is also the sequence that appears in the downloadable versions of the entry. canonicali
10 20 30 40 50
MAVLRQLALL LWKNYTLQKR KVLVTVLELF LPLLFSGILI WLRLKIQSEN
60 70 80 90 100
VPNATIYPGQ SIQELPLFFT FPPPGDTWEL AYIPSHSDAA KTVTETVRRA
110 120 130 140 150
LVINMRVRGF PSEKDFEDYI RYDNCSSSVL AAVVFEHPFN HSKEPLPLAV
160 170 180 190 200
KYHLRFSYTR RNYMWTQTGS FFLKETEGWH TTSLFPLFPN PGPREPTSPD
210 220 230 240 250
GGEPGYIREG FLAVQHAVDR AIMEYHADAA TRQLFQRLTV TIKRFPYPPF
260 270 280 290 300
IADPFLVAIQ YQLPLLLLLS FTYTALTIAR AVVQEKERRL KEYMRMMGLS
310 320 330 340 350
SWLHWSAWFL LFFLFLLIAA SFMTLLFCVK VKPNVAVLSR SDPSLVLAFL
360 370 380 390 400
LCFAISTISF SFMVSTFFSK ANMAAAFGGF LYFFTYIPYF FVAPRYNWMT
410 420 430 440 450
LSQKLCSCLL SNVAMAMGAQ LIGKFEAKGM GIQWRDLLSP VNVDDDFCFG
460 470 480 490 500
QVLGMLLLDS VLYGLVTWYM EAVFPGQFGV PQPWYFFIMP SYWCGKPRAV
510 520 530 540 550
AGKEEEDSDP EKALRNEYFE AEPEDLVAGI KIKHLSKVFR VGNKDRAAVR
560 570 580 590 600
DLNLNLYEGQ ITVLLGHNGA GKTTTLSMLT GLFPPTSGRA YISGYEISQD
610 620 630 640 650
MVQIRKSLGL CPQHDILFDN LTVAEHLYFY AQLKGLSRQK CPEEVKQMLH
660 670 680 690 700
IIGLEDKWNS RSRFLSGGMR RKLSIGIALI AGSKVLILDE PTSGMDAISR
710 720 730 740 750
RAIWDLLQRQ KSDRTIVLTT HFMDEADLLG DRIAIMAKGE LQCCGSSLFL
760 770 780 790 800
KQKYGAGYHM TLVKEPHCNP EDISQLVHHH VPNATLESSA GAELSFILPR
810 820 830 840 850
ESTHRFEGLF AKLEKKQKEL GIASFGASIT TMEEVFLRVG KLVDSSMDIQ
860 870 880 890 900
AIQLPALQYQ HERRASDWAV DSNLCGAMDP SDGIGALIEE ERTAVKLNTG
910 920 930 940 950
LALHCQQFWA MFLKKAAYSW REWKMVAAQV LVPLTCVTLA LLAINYSSEL
960 970 980 990 1000
FDDPMLRLTL GEYGRTVVPF SVPGTSQLGQ QLSEHLKDAL QAEGQEPREV
1010 1020 1030 1040 1050
LGDLEEFLIF RASVEGGGFN ERCLVAASFR DVGERTVVNA LFNNQAYHSP
1060 1070 1080 1090 1100
ATALAVVDNL LFKLLCGPHA SIVVSNFPQP RSALQAAKDQ FNEGRKGFDI
1110 1120 1130 1140 1150
ALNLLFAMAF LASTFSILAV SERAVQAKHV QFVSGVHVAS FWLSALLWDL
1160 1170 1180 1190 1200
ISFLIPSLLL LVVFKAFDVR AFTRDGHMAD TLLLLLLYGW AIIPLMYLMN
1210 1220 1230 1240 1250
FFFLGAATAY TRLTIFNILS GIATFLMVTI MRIPAVKLEE LSKTLDHVFL
1260 1270 1280 1290 1300
VLPNHCLGMA VSSFYENYET RRYCTSSEVA AHYCKKYNIQ YQENFYAWSA
1310 1320 1330 1340 1350
PGVGRFVASM AASGCAYLIL LFLIETNLLQ RLRGILCALR RRRTLTELYT
1360 1370 1380 1390 1400
RMPVLPEDQD VADERTRILA PSPDSLLHTP LIIKELSKVY EQRVPLLAVD
1410 1420 1430 1440 1450
RLSLAVQKGE CFGLLGFNGA GKTTTFKMLT GEESLTSGDA FVGGHRISSD
1460 1470 1480 1490 1500
VGKVRQRIGY CPQFDALLDH MTGREMLVMY ARLRGIPERH IGACVENTLR
1510 1520 1530 1540 1550
GLLLEPHANK LVRTYSGGNK RKLSTGIALI GEPAVIFLDE PSTGMDPVAR
1560 1570 1580 1590 1600
RLLWDTVARA RESGKAIIIT SHSMEECEAL CTRLAIMVQG QFKCLGSPQH
1610 1620 1630 1640 1650
LKSKFGSGYS LRAKVQSEGQ QEALEEFKAF VDLTFPGSVL EDEHQGMVHY
1660 1670 1680 1690 1700
HLPGRDLSWA KVFGILEKAK EKYGVDDYSV SQISLEQVFL SFAHLQPPTA
EEGR
Computationally mapped potential isoform sequencesi
There is 1 potential isoform mapped to this entry.BLASTAlignShow allAdd to basketH0Y3H2 | H0Y3H2_HUMAN | ATP-binding cassette sub-family A m... | ABCA3 | 1,646 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 36 | S → P in AAC50967 (PubMed:8706931).Curated | 1 | |
Sequence conflicti | 196 | P → L in AAC50967 (PubMed:8706931).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023497 | 101 | L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909182EnsemblClinVar. | 1 | |
Natural variantiVAR_025061 | 140 | N → H1 PublicationCorresponds to variant dbSNP:rs45447801Ensembl. | 1 | |
Natural variantiVAR_035728 | 290 | L → M in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_023498 | 568 | N → D in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909184EnsemblClinVar. | 1 | |
Natural variantiVAR_025062 | 766 | P → S1 PublicationCorresponds to variant dbSNP:rs45592239EnsemblClinVar. | 1 | |
Natural variantiVAR_035729 | 801 | E → D in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_035730 | 1069 | H → Q in a breast cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_023499 | 1553 | L → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs121909183EnsemblClinVar. | 1 | |
Natural variantiVAR_023500 | 1591 | Q → P in SMDP3. 1 PublicationCorresponds to variant dbSNP:rs28936691EnsemblClinVar. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_056262 | 206 – 209 | YIRE → EKLG in isoform 2. 1 Publication | 4 | |
Alternative sequenceiVSP_056263 | 210 – 1704 | Missing in isoform 2. 1 PublicationAdd BLAST | 1495 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U78735 mRNA Translation: AAC50967.1 X97187 mRNA Translation: CAA65825.1 AB070929 mRNA Translation: BAB86781.1 DQ073080 Genomic DNA Translation: AAY57325.1 CH471112 Genomic DNA Translation: EAW85515.1 BC020724 mRNA Translation: AAH20724.1 BC062779 mRNA Translation: AAH62779.1 AC009065 Genomic DNA No translation available. AC098805 Genomic DNA No translation available. AC106820 Genomic DNA No translation available. BC140895 mRNA Translation: AAI40896.1 BC146866 mRNA Translation: AAI46867.1 |
CCDSi | CCDS10466.1 [Q99758-1] |
PIRi | A59188 S71363 |
RefSeqi | NP_001080.2, NM_001089.2 [Q99758-1] |
Genome annotation databases
Ensembli | ENST00000301732; ENSP00000301732; ENSG00000167972 [Q99758-1] ENST00000567910; ENSP00000454397; ENSG00000167972 [Q99758-2] |
GeneIDi | 21 |
KEGGi | hsa:21 |
UCSCi | uc002cpy.2, human [Q99758-1] |
Keywords - Coding sequence diversityi
Alternative splicingSimilar proteinsi
Cross-referencesi
Web resourcesi
SeattleSNPs |
ABCMdb Database for mutations in ABC proteins |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | U78735 mRNA Translation: AAC50967.1 X97187 mRNA Translation: CAA65825.1 AB070929 mRNA Translation: BAB86781.1 DQ073080 Genomic DNA Translation: AAY57325.1 CH471112 Genomic DNA Translation: EAW85515.1 BC020724 mRNA Translation: AAH20724.1 BC062779 mRNA Translation: AAH62779.1 AC009065 Genomic DNA No translation available. AC098805 Genomic DNA No translation available. AC106820 Genomic DNA No translation available. BC140895 mRNA Translation: AAI40896.1 BC146866 mRNA Translation: AAI46867.1 |
CCDSi | CCDS10466.1 [Q99758-1] |
PIRi | A59188 S71363 |
RefSeqi | NP_001080.2, NM_001089.2 [Q99758-1] |
3D structure databases
SMRi | Q99758 |
ModBasei | Search... |
Protein-protein interaction databases
BioGRIDi | 106539, 33 interactors |
IntActi | Q99758, 20 interactors |
MINTi | Q99758 |
STRINGi | 9606.ENSP00000301732 |
Chemistry databases
DrugBanki | DB00619, Imatinib |
Protein family/group databases
TCDBi | 3.A.1.211.5, the atp-binding cassette (abc) superfamily |
PTM databases
iPTMneti | Q99758 |
PhosphoSitePlusi | Q99758 |
Genetic variation databases
BioMutai | ABCA3 |
DMDMi | 85700402 |
Proteomic databases
jPOSTi | Q99758 |
MassIVEi | Q99758 |
MaxQBi | Q99758 |
PaxDbi | Q99758 |
PeptideAtlasi | Q99758 |
PRIDEi | Q99758 |
ProteomicsDBi | 66998 78463 [Q99758-1] |
Protocols and materials databases
Antibodypediai | 1409, 68 antibodies |
Genome annotation databases
Ensembli | ENST00000301732; ENSP00000301732; ENSG00000167972 [Q99758-1] ENST00000567910; ENSP00000454397; ENSG00000167972 [Q99758-2] |
GeneIDi | 21 |
KEGGi | hsa:21 |
UCSCi | uc002cpy.2, human [Q99758-1] |
Organism-specific databases
CTDi | 21 |
DisGeNETi | 21 |
GeneCardsi | ABCA3 |
HGNCi | HGNC:33, ABCA3 |
HPAi | ENSG00000167972, Tissue enhanced (brain, lung) |
MalaCardsi | ABCA3 |
MIMi | 601615, gene 610921, phenotype |
neXtProti | NX_Q99758 |
OpenTargetsi | ENSG00000167972 |
Orphaneti | 2032, Idiopathic pulmonary fibrosis 70587, Infant acute respiratory distress syndrome 440402, Interstitial lung disease due to ABCA3 deficiency |
PharmGKBi | PA24378 |
VEuPathDBi | HostDB:ENSG00000167972.13 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG0059, Eukaryota |
GeneTreei | ENSGT00940000155289 |
HOGENOMi | CLU_113155_0_0_1 |
InParanoidi | Q99758 |
OMAi | QFDAMDQ |
PhylomeDBi | Q99758 |
TreeFami | TF105191 |
Enzyme and pathway databases
PathwayCommonsi | Q99758 |
Reactomei | R-HSA-1369062, ABC transporters in lipid homeostasis R-HSA-5683678, Defective ABCA3 causes SMDP3 R-HSA-5683826, Surfactant metabolism R-HSA-5688399, Defective ABCA3 causes SMDP3 |
SIGNORi | Q99758 |
Miscellaneous databases
BioGRID-ORCSi | 21, 10 hits in 871 CRISPR screens |
ChiTaRSi | ABCA3, human |
GeneWikii | ABCA3 |
GenomeRNAii | 21 |
Pharosi | Q99758, Tbio |
PROi | PR:Q99758 |
RNActi | Q99758, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000167972, Expressed in right lung and 191 other tissues |
ExpressionAtlasi | Q99758, baseline and differential |
Genevisiblei | Q99758, HS |
Family and domain databases
InterProi | View protein in InterPro IPR003593, AAA+_ATPase IPR003439, ABC_transporter-like IPR017871, ABC_transporter_CS IPR026082, ABCA IPR027417, P-loop_NTPase |
PANTHERi | PTHR19229, PTHR19229, 1 hit |
Pfami | View protein in Pfam PF00005, ABC_tran, 2 hits |
SMARTi | View protein in SMART SM00382, AAA, 2 hits |
SUPFAMi | SSF52540, SSF52540, 2 hits |
PROSITEi | View protein in PROSITE PS00211, ABC_TRANSPORTER_1, 1 hit PS50893, ABC_TRANSPORTER_2, 2 hits |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | ABCA3_HUMAN | |
Accessioni | Q99758Primary (citable) accession number: Q99758 Secondary accession number(s): B2RU09 Q92473 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | May 30, 2000 |
Last sequence update: | January 24, 2006 | |
Last modified: | February 10, 2021 | |
This is version 179 of the entry and version 2 of the sequence. See complete history. | ||
Entry statusi | Reviewed (UniProtKB/Swiss-Prot) | |
Annotation program | Chordata Protein Annotation Program | |
Disclaimer | Any 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
Reference proteomeDocuments
- Human chromosome 16
Human chromosome 16: entries, gene names and cross-references to MIM - Human entries with genetic variants
List of human entries with genetic variants - Human variants curated from literature reports
Index of human variants curated from literature reports - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families