UniProtKB - Q53GD3 (CTL4_HUMAN)
Protein
Choline transporter-like protein 4
Gene
SLC44A4
Organism
Homo sapiens (Human)
Status
Functioni
Choline transporter that plays a role in the choline-acetylcholine system and is required to the efferent innervation of hair cells in the olivocochlear bundle for the maintenance of physiological function of outer hair cells and the protection of hair cells from acoustic injury (By similarity) (PubMed:23651124, PubMed:28013291). Also described as a thiamine pyrophosphate transporter in colon, may mediate the absorption of microbiota-generated thiamine pyrophosphate and contribute to host thiamine (vitamin B1) homeostasis (PubMed:24379411).By similarity3 Publications
Has also thiamine pyrophosphate transporter activity.1 Publication
Kineticsi
- KM=0.17 µM for thiamine pyrophosphate1 Publication
- Vmax=18.19 pmol/min/mg enzyme1 Publication
GO - Molecular functioni
- choline transmembrane transporter activity Source: UniProtKB
- thiamine pyrophosphate transmembrane transporter activity Source: UniProtKB
- transmembrane transporter activity Source: GO_Central
GO - Biological processi
- acetylcholine biosynthetic process Source: UniProtKB
- acetylcholine secretion Source: UniProtKB
- choline transport Source: UniProtKB
- neuromast hair cell development Source: UniProtKB
- otolith formation Source: UniProtKB
- phosphatidylcholine biosynthetic process Source: Reactome
- positive regulation of cell growth Source: UniProtKB
- thiamine pyrophosphate transmembrane transport Source: UniProtKB
- transmembrane transport Source: GO_Central
Enzyme and pathway databases
PathwayCommonsi | Q53GD3 |
Reactomei | R-HSA-1483191, Synthesis of PC R-HSA-425366, Transport of bile salts and organic acids, metal ions and amine compounds |
Protein family/group databases
TCDBi | 2.A.92.1.7, the choline transporter-like (ctl) family |
Names & Taxonomyi
Protein namesi | Recommended name: Choline transporter-like protein 41 PublicationAlternative name(s): Solute carrier family 44 member 4Imported Thiamine pyrophosphate transporter 11 Publication Short name: hTPPT11 Publication |
Gene namesi | ORF Names:UNQ441/PRO874 |
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
EuPathDBi | HostDB:ENSG00000204385.10 |
HGNCi | HGNC:13941, SLC44A4 |
MIMi | 606107, gene |
neXtProti | NX_Q53GD3 |
Subcellular locationi
Plasma membrane
- Apical cell membrane 1 Publication
Other locations
- Membrane 2 Publications; Multi-pass membrane protein 2 Publications
Extracellular region or secreted
- extracellular exosome Source: UniProtKB
Plasma Membrane
- apical plasma membrane Source: UniProtKB
- plasma membrane Source: UniProtKB
Other locations
- integral component of membrane Source: UniProtKB-KW
- membrane Source: GO_Central
Topology
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Topological domaini | 1 – 34 | CytoplasmicSequence analysisAdd BLAST | 34 | |
Transmembranei | 35 – 55 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 56 – 229 | ExtracellularSequence analysisAdd BLAST | 174 | |
Transmembranei | 230 – 250 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 251 – 252 | CytoplasmicSequence analysis | 2 | |
Transmembranei | 253 – 273 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 274 – 309 | ExtracellularSequence analysisAdd BLAST | 36 | |
Transmembranei | 310 – 330 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 331 – 358 | CytoplasmicSequence analysisAdd BLAST | 28 | |
Transmembranei | 359 – 379 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 380 – 455 | ExtracellularSequence analysisAdd BLAST | 76 | |
Transmembranei | 456 – 476 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 477 – 501 | CytoplasmicSequence analysisAdd BLAST | 25 | |
Transmembranei | 502 – 522 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 523 – 560 | ExtracellularSequence analysisAdd BLAST | 38 | |
Transmembranei | 561 – 581 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 582 – 597 | CytoplasmicSequence analysisAdd BLAST | 16 | |
Transmembranei | 598 – 618 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 619 – 638 | ExtracellularSequence analysisAdd BLAST | 20 | |
Transmembranei | 639 – 659 | HelicalSequence analysisAdd BLAST | 21 | |
Topological domaini | 660 – 710 | CytoplasmicSequence analysisAdd BLAST | 51 |
Keywords - Cellular componenti
Cell membrane, MembranePathology & Biotechi
Involvement in diseasei
An interstitial deletion causing the fusion of exon 10 of CTL4 with the 3'-UTR of NEU has been detected in two patients affected by sialidosis.
Deafness, autosomal dominant, 72 (DFNA72)1 Publication
The disease is caused by mutations affecting the gene represented in this entry.
Disease descriptionA form of non-syndromic sensorineural hearing loss. Sensorineural deafness results from damage to the neural receptors of the inner ear, the nerve pathways to the brain, or the area of the brain that receives sound information. DFNA72 primarily affects the middle frequencies. It gradually progresses to whole-frequency hearing loss.
Related information in OMIMFeature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_078848 | 156 | M → V in DFNA72; decreases choline transmembrane transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1135402753EnsemblClinVar. | 1 |
Mutagenesis
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Mutagenesisi | 29 | N → D: No effect on glycosylation. 1 Publication | 1 | |
Mutagenesisi | 69 | N → D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake. 1 Publication | 1 | |
Mutagenesisi | 155 | N → D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake. 1 Publication | 1 | |
Mutagenesisi | 197 | N → D: Decreases glycosylation levels. No effect on thiamine pyrophosphate uptake. 1 Publication | 1 | |
Mutagenesisi | 298 | N → D: No effect on glycosylation. 1 Publication | 1 | |
Mutagenesisi | 393 | N → D: Decreases glycosylation levels. Decreases thiamine pyrophosphate uptake. 1 Publication | 1 | |
Mutagenesisi | 409 | N → D: No effect on glycosylation. 1 Publication | 1 | |
Mutagenesisi | 416 | N → D: Decreases glycosylation levels. No effect on thiamine pyrophosphate uptake. 1 Publication | 1 |
Sites
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sitei | 308 | Breakpoint for translocation with NEU1 | 1 |
Keywords - Diseasei
Deafness, Disease mutation, Non-syndromic deafnessOrganism-specific databases
DisGeNETi | 80736 |
MalaCardsi | SLC44A4 |
MIMi | 617606, phenotype |
OpenTargetsi | ENSG00000204385 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA25930 |
Miscellaneous databases
Pharosi | Q53GD3, Tbio |
Chemistry databases
ChEMBLi | CHEMBL3713014 |
DrugBanki | DB00122, Choline DB14006, Choline salicylate |
Polymorphism and mutation databases
BioMutai | SLC44A4 |
DMDMi | 311033368 |
PTM / Processingi
Molecule processing
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
ChainiPRO_0000191723 | 1 – 710 | Choline transporter-like protein 4Add BLAST | 710 |
Amino acid modifications
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Glycosylationi | 69 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 155 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 197 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 298 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 393 | N-linked (GlcNAc...) asparagine1 Publication | 1 | |
Glycosylationi | 405 | N-linked (GlcNAc...) asparagineSequence analysis | 1 | |
Glycosylationi | 416 | N-linked (GlcNAc...) asparagine1 Publication | 1 |
Post-translational modificationi
N-glycosylated; N-glycosylation of Asn-69, Asn-155 and Asn-393 is required for a proper thiamine pyrophosphate uptake.1 Publication
Keywords - PTMi
GlycoproteinProteomic databases
jPOSTi | Q53GD3 |
MassIVEi | Q53GD3 |
MaxQBi | Q53GD3 |
PaxDbi | Q53GD3 |
PeptideAtlasi | Q53GD3 |
PRIDEi | Q53GD3 |
ProteomicsDBi | 19913 5163 5359 62477 [Q53GD3-1] 62478 [Q53GD3-2] |
PTM databases
GlyConnecti | 1112, 3 N-Linked glycans (1 site) |
GlyGeni | Q53GD3, 7 sites |
iPTMneti | Q53GD3 |
PhosphoSitePlusi | Q53GD3 |
Expressioni
Tissue specificityi
Highly expressed in colon, also detected in prostate, trachea and lung (PubMed:24379411). Isoform 3 is also expressed in colon but a lower levels (PubMed:24379411).1 Publication
Gene expression databases
Bgeei | ENSG00000204385, Expressed in mucosa of transverse colon and 149 other tissues |
ExpressionAtlasi | Q53GD3, baseline and differential |
Genevisiblei | Q53GD3, HS |
Organism-specific databases
HPAi | ENSG00000204385, Tissue enhanced (gallbladder, intestine) |
Interactioni
Protein-protein interaction databases
IntActi | Q53GD3, 2 interactors |
STRINGi | 9606.ENSP00000229729 |
Miscellaneous databases
RNActi | Q53GD3, protein |
Family & Domainsi
Sequence similaritiesi
Belongs to the CTL (choline transporter-like) family.Curated
Keywords - Domaini
Transmembrane, Transmembrane helixPhylogenomic databases
eggNOGi | KOG1362, Eukaryota |
GeneTreei | ENSGT00940000160576 |
HOGENOMi | CLU_017181_3_1_1 |
InParanoidi | Q53GD3 |
OMAi | FASAWPW |
PhylomeDBi | Q53GD3 |
TreeFami | TF313325 |
Family and domain databases
InterProi | View protein in InterPro IPR007603, Choline_transptr-like |
PANTHERi | PTHR12385, PTHR12385, 1 hit |
Pfami | View protein in Pfam PF04515, Choline_transpo, 1 hit |
s (4+)i Sequence
Sequence statusi: Complete.
This entry describes 4 produced by isoformsialternative splicing. AlignAdd to basketThis entry has 4 described isoforms and 3 potential isoforms that are computationally mapped.Show allAlign All
Isoform 1 (identifier: Q53GD3-1) [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
MGGKQRDEDD EAYGKPVKYD PSFRGPIKNR SCTDVICCVL FLLFILGYIV
60 70 80 90 100
VGIVAWLYGD PRQVLYPRNS TGAYCGMGEN KDKPYLLYFN IFSCILSSNI
110 120 130 140 150
ISVAENGLQC PTPQVCVSSC PEDPWTVGKN EFSQTVGEVF YTKNRNFCLP
160 170 180 190 200
GVPWNMTVIT SLQQELCPSF LLPSAPALGR CFPWTNVTPP ALPGITNDTT
210 220 230 240 250
IQQGISGLID SLNARDISVK IFEDFAQSWY WILVALGVAL VLSLLFILLL
260 270 280 290 300
RLVAGPLVLV LILGVLGVLA YGIYYCWEEY RVLRDKGASI SQLGFTTNLS
310 320 330 340 350
AYQSVQETWL AALIVLAVLE AILLLMLIFL RQRIRIAIAL LKEASKAVGQ
360 370 380 390 400
MMSTMFYPLV TFVLLLICIA YWAMTALYLA TSGQPQYVLW ASNISSPGCE
410 420 430 440 450
KVPINTSCNP TAHLVNSSCP GLMCVFQGYS SKGLIQRSVF NLQIYGVLGL
460 470 480 490 500
FWTLNWVLAL GQCVLAGAFA SFYWAFHKPQ DIPTFPLISA FIRTLRYHTG
510 520 530 540 550
SLAFGALILT LVQIARVILE YIDHKLRGVQ NPVARCIMCC FKCCLWCLEK
560 570 580 590 600
FIKFLNRNAY IMIAIYGKNF CVSAKNAFML LMRNIVRVVV LDKVTDLLLF
610 620 630 640 650
FGKLLVVGGV GVLSFFFFSG RIPGLGKDFK SPHLNYYWLP IMTSILGAYV
660 670 680 690 700
IASGFFSVFG MCVDTLFLCF LEDLERNNGS LDRPYYMSKS LLKILGKKNE
710
APPDNKKRKK
Computationally mapped potential isoform sequencesi
There are 3 potential isoforms mapped to this entry.BLASTAlignShow allAdd to basketH0Y5I3 | H0Y5I3_HUMAN | Choline transporter-like protein 4 | SLC44A4 | 411 | Annotation score: | ||
A0A0G2JL76 | A0A0G2JL76_HUMAN | Choline transporter-like protein 4 | SLC44A4 | 634 | Annotation score: | ||
A0A0G2JIN1 | A0A0G2JIN1_HUMAN | Choline transporter-like protein 4 | SLC44A4 | 411 | Annotation score: |
Experimental Info
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Sequence conflicti | 117 – 118 | Missing in CAH56275 (PubMed:17974005).Curated | 2 | |
Sequence conflicti | 144 – 145 | NR → SS in BAB55083 (PubMed:14702039).Curated | 2 | |
Sequence conflicti | 379 – 386 | LATSGQPQ → PLPTQPATLG in AAD21813 (PubMed:14656967).Curated | 8 | |
Sequence conflicti | 379 – 386 | LATSGQPQ → PLPTQPATLG in BAB63296 (Ref. 5) Curated | 8 | |
Sequence conflicti | 636 | Missing in AAH14659 (PubMed:15489334).Curated | 1 |
Natural variant
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Natural variantiVAR_023406 | 6 | R → L Polymorphism; no effect on thiamine pyrophosphate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs2075798Ensembl. | 1 | |
Natural variantiVAR_047020 | 123 | D → V Polymorphism; no effect on thiamine pyrophosphate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs12661281Ensembl. | 1 | |
Natural variantiVAR_047021 | 128 | G → E1 PublicationCorresponds to variant dbSNP:rs17856465Ensembl. | 1 | |
Natural variantiVAR_078848 | 156 | M → V in DFNA72; decreases choline transmembrane transporter activity. 1 PublicationCorresponds to variant dbSNP:rs1135402753EnsemblClinVar. | 1 | |
Natural variantiVAR_023407 | 187 | V → I9 PublicationsCorresponds to variant dbSNP:rs2242665Ensembl. | 1 | |
Natural variantiVAR_023408 | 326 | M → V8 PublicationsCorresponds to variant dbSNP:rs644827Ensembl. | 1 | |
Natural variantiVAR_036210 | 347 | A → T in a colorectal cancer sample; somatic mutation. 1 Publication | 1 | |
Natural variantiVAR_078849 | 397 | P → S Polymorphism; no effect on thiamine pyrophosphate transporter activity. 1 PublicationCorresponds to variant dbSNP:rs116706632Ensembl. | 1 | |
Natural variantiVAR_036211 | 411 | T → M in a colorectal cancer sample; somatic mutation. 1 PublicationCorresponds to variant dbSNP:rs563426936Ensembl. | 1 | |
Natural variantiVAR_023409 | 493 | R → C. Corresponds to variant dbSNP:rs6915800Ensembl. | 1 |
Alternative sequence
Feature key | Position(s) | DescriptionActions | Graphical view | Length |
---|---|---|---|---|
Alternative sequenceiVSP_030998 | 1 – 422 | Missing in isoform 2. 1 PublicationAdd BLAST | 422 | |
Alternative sequenceiVSP_046236 | 1 – 76 | Missing in isoform 3. 1 PublicationAdd BLAST | 76 | |
Alternative sequenceiVSP_046821 | 115 – 156 | Missing in isoform 4. 1 PublicationAdd BLAST | 42 |
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027397 mRNA Translation: BAB55083.1 AK300550 mRNA Translation: BAG62256.1 AK301596 mRNA Translation: BAG63084.1 AY358457 mRNA Translation: AAQ88822.1 AK222998 mRNA Translation: BAD96718.1 AF134726 Genomic DNA Translation: AAD21813.1 BA000025 Genomic DNA Translation: BAB63296.1 AL662834 Genomic DNA No translation available. AL671762 Genomic DNA No translation available. AL844853 Genomic DNA No translation available. BX005460 Genomic DNA No translation available. CR388202 Genomic DNA No translation available. CR759784 Genomic DNA No translation available. CR936237 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03538.1 BC014659 mRNA Translation: AAH14659.1 AF466766 mRNA Translation: AAL75992.1 AL833009 mRNA Translation: CAH56275.1 |
CCDSi | CCDS4724.2 [Q53GD3-1] CCDS54989.1 [Q53GD3-3] CCDS54990.1 [Q53GD3-4] |
RefSeqi | NP_001171515.1, NM_001178044.1 [Q53GD3-4] NP_001171516.1, NM_001178045.1 [Q53GD3-3] NP_079533.2, NM_025257.2 [Q53GD3-1] |
Genome annotation databases
Keywords - Coding sequence diversityi
Alternative splicing, PolymorphismSimilar proteinsi
Cross-referencesi
Sequence databases
Select the link destinations: EMBLi GenBanki DDBJi Links Updated | AK027397 mRNA Translation: BAB55083.1 AK300550 mRNA Translation: BAG62256.1 AK301596 mRNA Translation: BAG63084.1 AY358457 mRNA Translation: AAQ88822.1 AK222998 mRNA Translation: BAD96718.1 AF134726 Genomic DNA Translation: AAD21813.1 BA000025 Genomic DNA Translation: BAB63296.1 AL662834 Genomic DNA No translation available. AL671762 Genomic DNA No translation available. AL844853 Genomic DNA No translation available. BX005460 Genomic DNA No translation available. CR388202 Genomic DNA No translation available. CR759784 Genomic DNA No translation available. CR936237 Genomic DNA No translation available. CH471081 Genomic DNA Translation: EAX03538.1 BC014659 mRNA Translation: AAH14659.1 AF466766 mRNA Translation: AAL75992.1 AL833009 mRNA Translation: CAH56275.1 |
CCDSi | CCDS4724.2 [Q53GD3-1] CCDS54989.1 [Q53GD3-3] CCDS54990.1 [Q53GD3-4] |
RefSeqi | NP_001171515.1, NM_001178044.1 [Q53GD3-4] NP_001171516.1, NM_001178045.1 [Q53GD3-3] NP_079533.2, NM_025257.2 [Q53GD3-1] |
3D structure databases
ModBasei | Search... |
SWISS-MODEL-Workspacei | Submit a new modelling project... |
Protein-protein interaction databases
IntActi | Q53GD3, 2 interactors |
STRINGi | 9606.ENSP00000229729 |
Chemistry databases
ChEMBLi | CHEMBL3713014 |
DrugBanki | DB00122, Choline DB14006, Choline salicylate |
Protein family/group databases
TCDBi | 2.A.92.1.7, the choline transporter-like (ctl) family |
PTM databases
GlyConnecti | 1112, 3 N-Linked glycans (1 site) |
GlyGeni | Q53GD3, 7 sites |
iPTMneti | Q53GD3 |
PhosphoSitePlusi | Q53GD3 |
Polymorphism and mutation databases
BioMutai | SLC44A4 |
DMDMi | 311033368 |
Proteomic databases
jPOSTi | Q53GD3 |
MassIVEi | Q53GD3 |
MaxQBi | Q53GD3 |
PaxDbi | Q53GD3 |
PeptideAtlasi | Q53GD3 |
PRIDEi | Q53GD3 |
ProteomicsDBi | 19913 5163 5359 62477 [Q53GD3-1] 62478 [Q53GD3-2] |
Protocols and materials databases
Antibodypediai | 71079, 54 antibodies |
Genome annotation databases
Organism-specific databases
CTDi | 80736 |
DisGeNETi | 80736 |
EuPathDBi | HostDB:ENSG00000204385.10 |
GeneCardsi | SLC44A4 |
HGNCi | HGNC:13941, SLC44A4 |
HPAi | ENSG00000204385, Tissue enhanced (gallbladder, intestine) |
MalaCardsi | SLC44A4 |
MIMi | 606107, gene 617606, phenotype |
neXtProti | NX_Q53GD3 |
OpenTargetsi | ENSG00000204385 |
Orphaneti | 90635, Autosomal dominant non-syndromic sensorineural deafness type DFNA |
PharmGKBi | PA25930 |
GenAtlasi | Search... |
Phylogenomic databases
eggNOGi | KOG1362, Eukaryota |
GeneTreei | ENSGT00940000160576 |
HOGENOMi | CLU_017181_3_1_1 |
InParanoidi | Q53GD3 |
OMAi | FASAWPW |
PhylomeDBi | Q53GD3 |
TreeFami | TF313325 |
Enzyme and pathway databases
PathwayCommonsi | Q53GD3 |
Reactomei | R-HSA-1483191, Synthesis of PC R-HSA-425366, Transport of bile salts and organic acids, metal ions and amine compounds |
Miscellaneous databases
BioGRID-ORCSi | 80736, 6 hits in 840 CRISPR screens |
ChiTaRSi | SLC44A4, human |
GeneWikii | SLC44A4 |
GenomeRNAii | 80736 |
Pharosi | Q53GD3, Tbio |
PROi | PR:Q53GD3 |
RNActi | Q53GD3, protein |
SOURCEi | Search... |
Gene expression databases
Bgeei | ENSG00000204385, Expressed in mucosa of transverse colon and 149 other tissues |
ExpressionAtlasi | Q53GD3, baseline and differential |
Genevisiblei | Q53GD3, HS |
Family and domain databases
InterProi | View protein in InterPro IPR007603, Choline_transptr-like |
PANTHERi | PTHR12385, PTHR12385, 1 hit |
Pfami | View protein in Pfam PF04515, Choline_transpo, 1 hit |
ProtoNeti | Search... |
MobiDBi | Search... |
Entry informationi
Entry namei | CTL4_HUMAN | |
Accessioni | Q53GD3Primary (citable) accession number: Q53GD3 Secondary accession number(s): A2BED3 Q9Y332 | |
Entry historyi | Integrated into UniProtKB/Swiss-Prot: | August 30, 2005 |
Last sequence update: | November 2, 2010 | |
Last modified: | December 2, 2020 | |
This is version 141 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 6
Human chromosome 6: entries, gene names and cross-references to MIM - Human polymorphisms and disease mutations
Index of human polymorphisms and disease mutations - MIM cross-references
Online Mendelian Inheritance in Man (MIM) cross-references in UniProtKB/Swiss-Prot - SIMILARITY comments
Index of protein domains and families - Human entries with polymorphisms or disease mutations
List of human entries with polymorphisms or disease mutations