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Q9NQ48

- LZTL1_HUMAN

UniProt

Q9NQ48 - LZTL1_HUMAN

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Protein

Leucine zipper transcription factor-like protein 1

Gene

LZTFL1

Organism
Homo sapiens (Human)
Status
Reviewed - Annotation score: 5 out of 5- Experimental evidence at protein leveli

Functioni

Regulates ciliary localization of the BBSome complex. Together with the BBSome complex, controls SMO ciliary trafficking and contributes to the sonic hedgehog (SHH) pathway regulation. May play a role in neurite outgrowth. May have tumor suppressor function.3 Publications

GO - Molecular functioni

  1. identical protein binding Source: IntAct

GO - Biological processi

  1. establishment of protein localization to organelle Source: Ensembl
Complete GO annotation...

Names & Taxonomyi

Protein namesi
Recommended name:
Leucine zipper transcription factor-like protein 1
Gene namesi
Name:LZTFL1
OrganismiHomo sapiens (Human)
Taxonomic identifieri9606 [NCBI]
Taxonomic lineageiEukaryotaMetazoaChordataCraniataVertebrataEuteleostomiMammaliaEutheriaEuarchontogliresPrimatesHaplorrhiniCatarrhiniHominidaeHomo
ProteomesiUP000005640: Chromosome 3

Organism-specific databases

HGNCiHGNC:6741. LZTFL1.

Subcellular locationi

Cytoplasm 2 Publications

GO - Cellular componenti

  1. BBSome Source: UniProtKB
  2. cytoplasm Source: UniProtKB-KW
Complete GO annotation...

Keywords - Cellular componenti

Cytoplasm

Pathology & Biotechi

Involvement in diseasei

Bardet-Biedl syndrome 17 (BBS17) [MIM:209900]: A syndrome characterized by usually severe pigmentary retinopathy, early-onset obesity, polydactyly, hypogenitalism, renal malformation and mental retardation. Secondary features include diabetes mellitus, hypertension and congenital heart disease. Bardet-Biedl syndrome inheritance is autosomal recessive, but three mutated alleles (two at one locus, and a third at a second locus) may be required for clinical manifestation of some forms of the disease.2 Publications
Note: The disease is caused by mutations affecting the gene represented in this entry. Patients carrying LZTFL1 mutations manifest mesoaxial polydactyly, a clinical feature very uncommon for Bardet-Biedl syndrome (PubMed:22510444 and PubMed:23692385). Some patients manifest situs inversus (PubMed:22510444).1 Publication
Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871L → P in BBS17. 1 Publication
VAR_070104

Mutagenesis

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Mutagenesisi24 – 252KR → AS: Increases BBS4, BBS8 and BBS9 ciliary localization. 1 Publication

Keywords - Diseasei

Bardet-Biedl syndrome, Ciliopathy, Disease mutation, Obesity

Organism-specific databases

MIMi209900. phenotype.
Orphaneti110. Bardet-Biedl syndrome.
PharmGKBiPA30505.

PTM / Processingi

Molecule processing

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Chaini1 – 299299Leucine zipper transcription factor-like protein 1PRO_0000318757Add
BLAST

Proteomic databases

MaxQBiQ9NQ48.
PaxDbiQ9NQ48.
PRIDEiQ9NQ48.

2D gel databases

REPRODUCTION-2DPAGEIPI00478250.

PTM databases

PhosphoSiteiQ9NQ48.

Expressioni

Tissue specificityi

Expressed in prostate, ovary, stomach, pancreas, esophagus, breast, liver, bladder, kidney, thyroid, colon and lung (at protein level). Down-regulated in multiple primary tumors (at protein level). Detected in testis, heart, skeletal muscle, thymus, spleen, small intestine, and peripheral blood leukocytes.2 Publications

Developmental stagei

Expressed in brain, lung, liver, and kidney.1 Publication

Gene expression databases

BgeeiQ9NQ48.
CleanExiHS_LZTFL1.
ExpressionAtlasiQ9NQ48. baseline and differential.
GenevestigatoriQ9NQ48.

Organism-specific databases

HPAiHPA043466.
HPA048447.

Interactioni

Subunit structurei

Self-associates. Interacts with BBS9; the interaction mediates the association of LZTL1 with the BBsome complex and regulates BBSome ciliary trafficking.1 Publication

Binary interactionsi

WithEntry#Exp.IntActNotes
itself3EBI-2824799,EBI-2824799
BBS9Q3SYG46EBI-2824799,EBI-2826852

Protein-protein interaction databases

BioGridi120062. 16 interactions.
IntActiQ9NQ48. 5 interactions.
STRINGi9606.ENSP00000296135.

Structurei

3D structure databases

ProteinModelPortaliQ9NQ48.
ModBaseiSearch...
MobiDBiSearch...

Family & Domainsi

Region

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Regioni145 – 299155Interaction with BSS9Add
BLAST

Coiled coil

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Coiled coili96 – 296201Sequence AnalysisAdd
BLAST

Sequence similaritiesi

Belongs to the LZTFL1 family.Curated

Keywords - Domaini

Coiled coil

Phylogenomic databases

eggNOGiNOG68368.
GeneTreeiENSGT00390000016415.
HOGENOMiHOG000067838.
HOVERGENiHBG054284.
InParanoidiQ9NQ48.
OMAiGFNEHHQ.
OrthoDBiEOG7ZWD2H.
PhylomeDBiQ9NQ48.
TreeFamiTF329023.

Family and domain databases

InterProiIPR026157. LZTFL1.
[Graphical view]
PANTHERiPTHR21635. PTHR21635. 1 hit.

Sequences (3)i

Sequence statusi: Complete.

This entry describes 3 isoformsi produced by alternative splicing. Align

Isoform 1 (identifier: Q9NQ48-1) [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
MAELGLNEHH QNEVINYMRF ARSKRGLRLK TVDSCFQDLK ESRLVEDTFT
60 70 80 90 100
IDEVSEVLNG LQAVVHSEVE SELINTAYTN VLLLRQLFAQ AEKWYLKLQT
110 120 130 140 150
DISELENREL LEQVAEFEKA EITSSNKKPI LDVTKPKLAP LNEGGTAELL
160 170 180 190 200
NKEILRLQEE NEKLKSRLKT IEIQATNALD EKSKLEKALQ DLQLDQGNQK
210 220 230 240 250
DFIKAQDLSN LENTVAALKS EFQKTLNDKT ENQKSLEENL ATAKHDLLRV
260 270 280 290
QEQLHMAEKE LEKKFQQTAA YRNMKEILTK KNDQIKDLRK RLAQYEPED
Length:299
Mass (Da):34,592
Last modified:October 1, 2000 - v1
Checksum:iDCCD59AB98ED2C8A
GO
Isoform 2 (identifier: Q9NQ48-2) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-17: Missing.

Show »
Length:282
Mass (Da):32,599
Checksum:i93484845102E01AB
GO
Isoform 3 (identifier: Q9NQ48-3) [UniParc]FASTAAdd to Basket

The sequence of this isoform differs from the canonical sequence as follows:
     1-43: MAELGLNEHH...SCFQDLKESR → MRNQDPGKMG...SWAKFQEKAL
     260-299: ELEKKFQQTAAYRNMKEILTKKNDQIKDLRKRLAQYEPED → I

Show »
Length:256
Mass (Da):29,332
Checksum:i6A4C0DBFF9E07403
GO

Experimental Info

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Sequence conflicti108 – 1081R → Q in AAH25988. (PubMed:15489334)Curated
Sequence conflicti224 – 2241K → R in BAG64469. (PubMed:14702039)Curated

Natural variant

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Natural varianti87 – 871L → P in BBS17. 1 Publication
VAR_070104
Natural varianti152 – 1521K → E.1 Publication
Corresponds to variant rs17855512 [ dbSNP | Ensembl ].
VAR_038877
Natural varianti246 – 2461D → N.1 Publication
Corresponds to variant rs1129183 [ dbSNP | Ensembl ].
VAR_038878
Natural varianti251 – 2511Q → R.1 Publication
Corresponds to variant rs17852322 [ dbSNP | Ensembl ].
VAR_038879

Alternative sequence

Feature keyPosition(s)LengthDescriptionGraphical viewFeature identifierActions
Alternative sequencei1 – 4343MAELG…LKESR → MRNQDPGKMGRQRKSIKLYP THPLVTFPRSWAKFQEKAL in isoform 3. 1 PublicationVSP_053428Add
BLAST
Alternative sequencei1 – 1717Missing in isoform 2. 1 PublicationVSP_053429Add
BLAST
Alternative sequencei260 – 29940ELEKK…YEPED → I in isoform 3. 1 PublicationVSP_053430Add
BLAST

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ289880 Genomic DNA. Translation: CAB96873.1.
AJ297351 mRNA. Translation: CAB95836.1.
BX640604 mRNA. Translation: CAE45710.1.
AK093705 mRNA. Translation: BAG52751.1.
AK303416 mRNA. Translation: BAG64469.1.
AC098476 Genomic DNA. No translation available.
AC099782 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64749.1.
CH471055 Genomic DNA. Translation: EAW64750.1.
BC025988 mRNA. Translation: AAH25988.1.
BC042483 mRNA. Translation: AAH42483.1.
CCDSiCCDS2731.1. [Q9NQ48-1]
CCDS63608.1. [Q9NQ48-2]
CCDS63609.1. [Q9NQ48-3]
RefSeqiNP_001263307.1. NM_001276378.1. [Q9NQ48-2]
NP_001263308.1. NM_001276379.1. [Q9NQ48-3]
NP_065080.1. NM_020347.3. [Q9NQ48-1]
UniGeneiHs.30824.

Genome annotation databases

EnsembliENST00000296135; ENSP00000296135; ENSG00000163818. [Q9NQ48-1]
ENST00000536047; ENSP00000439522; ENSG00000163818. [Q9NQ48-2]
ENST00000539217; ENSP00000441784; ENSG00000163818. [Q9NQ48-3]
GeneIDi54585.
KEGGihsa:54585.
UCSCiuc003cox.2. human. [Q9NQ48-1]

Polymorphism databases

DMDMi74734310.

Keywords - Coding sequence diversityi

Alternative splicing, Polymorphism

Cross-referencesi

Sequence databases

Select the link destinations:
EMBL
GenBank
DDBJ
Links Updated
AJ289880 Genomic DNA. Translation: CAB96873.1 .
AJ297351 mRNA. Translation: CAB95836.1 .
BX640604 mRNA. Translation: CAE45710.1 .
AK093705 mRNA. Translation: BAG52751.1 .
AK303416 mRNA. Translation: BAG64469.1 .
AC098476 Genomic DNA. No translation available.
AC099782 Genomic DNA. No translation available.
CH471055 Genomic DNA. Translation: EAW64749.1 .
CH471055 Genomic DNA. Translation: EAW64750.1 .
BC025988 mRNA. Translation: AAH25988.1 .
BC042483 mRNA. Translation: AAH42483.1 .
CCDSi CCDS2731.1. [Q9NQ48-1 ]
CCDS63608.1. [Q9NQ48-2 ]
CCDS63609.1. [Q9NQ48-3 ]
RefSeqi NP_001263307.1. NM_001276378.1. [Q9NQ48-2 ]
NP_001263308.1. NM_001276379.1. [Q9NQ48-3 ]
NP_065080.1. NM_020347.3. [Q9NQ48-1 ]
UniGenei Hs.30824.

3D structure databases

ProteinModelPortali Q9NQ48.
ModBasei Search...
MobiDBi Search...

Protein-protein interaction databases

BioGridi 120062. 16 interactions.
IntActi Q9NQ48. 5 interactions.
STRINGi 9606.ENSP00000296135.

PTM databases

PhosphoSitei Q9NQ48.

Polymorphism databases

DMDMi 74734310.

2D gel databases

REPRODUCTION-2DPAGE IPI00478250.

Proteomic databases

MaxQBi Q9NQ48.
PaxDbi Q9NQ48.
PRIDEi Q9NQ48.

Protocols and materials databases

DNASUi 54585.
Structural Biology Knowledgebase Search...

Genome annotation databases

Ensembli ENST00000296135 ; ENSP00000296135 ; ENSG00000163818 . [Q9NQ48-1 ]
ENST00000536047 ; ENSP00000439522 ; ENSG00000163818 . [Q9NQ48-2 ]
ENST00000539217 ; ENSP00000441784 ; ENSG00000163818 . [Q9NQ48-3 ]
GeneIDi 54585.
KEGGi hsa:54585.
UCSCi uc003cox.2. human. [Q9NQ48-1 ]

Organism-specific databases

CTDi 54585.
GeneCardsi GC03M045840.
H-InvDB HIX0003243.
HGNCi HGNC:6741. LZTFL1.
HPAi HPA043466.
HPA048447.
MIMi 209900. phenotype.
606568. gene.
neXtProti NX_Q9NQ48.
Orphaneti 110. Bardet-Biedl syndrome.
PharmGKBi PA30505.
GenAtlasi Search...

Phylogenomic databases

eggNOGi NOG68368.
GeneTreei ENSGT00390000016415.
HOGENOMi HOG000067838.
HOVERGENi HBG054284.
InParanoidi Q9NQ48.
OMAi GFNEHHQ.
OrthoDBi EOG7ZWD2H.
PhylomeDBi Q9NQ48.
TreeFami TF329023.

Miscellaneous databases

GenomeRNAii 54585.
NextBioi 35469723.
PROi Q9NQ48.
SOURCEi Search...

Gene expression databases

Bgeei Q9NQ48.
CleanExi HS_LZTFL1.
ExpressionAtlasi Q9NQ48. baseline and differential.
Genevestigatori Q9NQ48.

Family and domain databases

InterProi IPR026157. LZTFL1.
[Graphical view ]
PANTHERi PTHR21635. PTHR21635. 1 hit.
ProtoNeti Search...

Publicationsi

« Hide 'large scale' publications
  1. "The LZTFL1 gene is a part of a transcriptional map covering 250 kb within the common eliminated region 1 (C3CER1) in 3p21.3."
    Kiss H., Kedra D., Kiss C., Kost-Alimova M., Yang Y., Klein G., Imreh S., Dumanski J.P.
    Genomics 73:10-19(2001) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [GENOMIC DNA / MRNA] (ISOFORM 1), TISSUE SPECIFICITY, DEVELOPMENTAL STAGE, VARIANT ASN-246.
    Tissue: Testis.
  2. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1).
    Tissue: Endometrial adenocarcinoma.
  3. "Complete sequencing and characterization of 21,243 full-length human cDNAs."
    Ota T., Suzuki Y., Nishikawa T., Otsuki T., Sugiyama T., Irie R., Wakamatsu A., Hayashi K., Sato H., Nagai K., Kimura K., Makita H., Sekine M., Obayashi M., Nishi T., Shibahara T., Tanaka T., Ishii S.
    , Yamamoto J., Saito K., Kawai Y., Isono Y., Nakamura Y., Nagahari K., Murakami K., Yasuda T., Iwayanagi T., Wagatsuma M., Shiratori A., Sudo H., Hosoiri T., Kaku Y., Kodaira H., Kondo H., Sugawara M., Takahashi M., Kanda K., Yokoi T., Furuya T., Kikkawa E., Omura Y., Abe K., Kamihara K., Katsuta N., Sato K., Tanikawa M., Yamazaki M., Ninomiya K., Ishibashi T., Yamashita H., Murakawa K., Fujimori K., Tanai H., Kimata M., Watanabe M., Hiraoka S., Chiba Y., Ishida S., Ono Y., Takiguchi S., Watanabe S., Yosida M., Hotuta T., Kusano J., Kanehori K., Takahashi-Fujii A., Hara H., Tanase T.-O., Nomura Y., Togiya S., Komai F., Hara R., Takeuchi K., Arita M., Imose N., Musashino K., Yuuki H., Oshima A., Sasaki N., Aotsuka S., Yoshikawa Y., Matsunawa H., Ichihara T., Shiohata N., Sano S., Moriya S., Momiyama H., Satoh N., Takami S., Terashima Y., Suzuki O., Nakagawa S., Senoh A., Mizoguchi H., Goto Y., Shimizu F., Wakebe H., Hishigaki H., Watanabe T., Sugiyama A., Takemoto M., Kawakami B., Yamazaki M., Watanabe K., Kumagai A., Itakura S., Fukuzumi Y., Fujimori Y., Komiyama M., Tashiro H., Tanigami A., Fujiwara T., Ono T., Yamada K., Fujii Y., Ozaki K., Hirao M., Ohmori Y., Kawabata A., Hikiji T., Kobatake N., Inagaki H., Ikema Y., Okamoto S., Okitani R., Kawakami T., Noguchi S., Itoh T., Shigeta K., Senba T., Matsumura K., Nakajima Y., Mizuno T., Morinaga M., Sasaki M., Togashi T., Oyama M., Hata H., Watanabe M., Komatsu T., Mizushima-Sugano J., Satoh T., Shirai Y., Takahashi Y., Nakagawa K., Okumura K., Nagase T., Nomura N., Kikuchi H., Masuho Y., Yamashita R., Nakai K., Yada T., Nakamura Y., Ohara O., Isogai T., Sugano S.
    Nat. Genet. 36:40-45(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORMS 2 AND 3).
  4. "The DNA sequence, annotation and analysis of human chromosome 3."
    Muzny D.M., Scherer S.E., Kaul R., Wang J., Yu J., Sudbrak R., Buhay C.J., Chen R., Cree A., Ding Y., Dugan-Rocha S., Gill R., Gunaratne P., Harris R.A., Hawes A.C., Hernandez J., Hodgson A.V., Hume J.
    , Jackson A., Khan Z.M., Kovar-Smith C., Lewis L.R., Lozado R.J., Metzker M.L., Milosavljevic A., Miner G.R., Morgan M.B., Nazareth L.V., Scott G., Sodergren E., Song X.-Z., Steffen D., Wei S., Wheeler D.A., Wright M.W., Worley K.C., Yuan Y., Zhang Z., Adams C.Q., Ansari-Lari M.A., Ayele M., Brown M.J., Chen G., Chen Z., Clendenning J., Clerc-Blankenburg K.P., Chen R., Chen Z., Davis C., Delgado O., Dinh H.H., Dong W., Draper H., Ernst S., Fu G., Gonzalez-Garay M.L., Garcia D.K., Gillett W., Gu J., Hao B., Haugen E., Havlak P., He X., Hennig S., Hu S., Huang W., Jackson L.R., Jacob L.S., Kelly S.H., Kube M., Levy R., Li Z., Liu B., Liu J., Liu W., Lu J., Maheshwari M., Nguyen B.-V., Okwuonu G.O., Palmeiri A., Pasternak S., Perez L.M., Phelps K.A., Plopper F.J., Qiang B., Raymond C., Rodriguez R., Saenphimmachak C., Santibanez J., Shen H., Shen Y., Subramanian S., Tabor P.E., Verduzco D., Waldron L., Wang J., Wang J., Wang Q., Williams G.A., Wong G.K.-S., Yao Z., Zhang J., Zhang X., Zhao G., Zhou J., Zhou Y., Nelson D., Lehrach H., Reinhardt R., Naylor S.L., Yang H., Olson M., Weinstock G., Gibbs R.A.
    Nature 440:1194-1198(2006) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  5. Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE GENOMIC DNA].
  6. "The status, quality, and expansion of the NIH full-length cDNA project: the Mammalian Gene Collection (MGC)."
    The MGC Project Team
    Genome Res. 14:2121-2127(2004) [PubMed] [Europe PMC] [Abstract]
    Cited for: NUCLEOTIDE SEQUENCE [LARGE SCALE MRNA] (ISOFORM 1), VARIANTS GLU-152 AND ARG-251.
    Tissue: Testis.
  7. "Tumor-suppressive functions of leucine zipper transcription factor-like 1."
    Wei Q., Zhou W., Wang W., Gao B., Wang L., Cao J., Liu Z.P.
    Cancer Res. 70:2942-2950(2010) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION AS TUMOR SUPPRESSOR, SUBCELLULAR LOCATION, TISSUE SPECIFICITY.
  8. Cited for: IDENTIFICATION BY MASS SPECTROMETRY [LARGE SCALE ANALYSIS].
  9. "A novel protein LZTFL1 regulates ciliary trafficking of the BBSome and Smoothened."
    Seo S., Zhang Q., Bugge K., Breslow D.K., Searby C.C., Nachury M.V., Sheffield V.C.
    PLoS Genet. 7:E1002358-E1002358(2011) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION, SELF-ASSOCIATION, INTERACTION WITH BBS9, ASSOCIATION WITH THE BBSOME COMPLEX, SUBCELLULAR LOCATION, MUTAGENESIS OF 24-LYS-ARG-25.
  10. "Exome sequencing identifies mutations in LZTFL1, a BBSome and smoothened trafficking regulator, in a family with Bardet--Biedl syndrome with situs inversus and insertional polydactyly."
    Marion V., Stutzmann F., Gerard M., De Melo C., Schaefer E., Claussmann A., Helle S., Delague V., Souied E., Barrey C., Verloes A., Stoetzel C., Dollfus H.
    J. Med. Genet. 49:317-321(2012) [PubMed] [Europe PMC] [Abstract]
    Cited for: FUNCTION IN SONIC HEDGEHOG PATHWAY, INVOLVEMENT IN BBS17.
  11. "Mesoaxial polydactyly is a major feature in Bardet-Biedl syndrome patients with LZTFL1 (BBS17) mutations."
    Schaefer E., Lauer J., Durand M., Pelletier V., Obringer C., Claussmann A., Braun J.J., Redin C., Mathis C., Muller J., Schmidt-Mutter C., Flori E., Marion V., Stoetzel C., Dollfus H.
    Clin. Genet. 85:476-481(2014) [PubMed] [Europe PMC] [Abstract]
    Cited for: VARIANT BBS17 PRO-87.

Entry informationi

Entry nameiLZTL1_HUMAN
AccessioniPrimary (citable) accession number: Q9NQ48
Secondary accession number(s): B3KSI9
, B4E0K7, Q8TC61, Q9NQ56
Entry historyi
Integrated into UniProtKB/Swiss-Prot: February 26, 2008
Last sequence update: October 1, 2000
Last modified: October 29, 2014
This is version 96 of the entry and version 1 of the sequence. [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. Human chromosome 3
    Human chromosome 3: entries, gene names and cross-references to MIM
  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. SIMILARITY comments
    Index of protein domains and families

External Data

Dasty 3