Gene/Proteome Database (LMPD)
LMPD ID
LMP001245
Gene ID
Species
Homo sapiens (Human)
Gene Name
PITPNM family member 3
Gene Symbol
Synonyms
ACKR6; CORD5; NIR1; RDGBA3
Chromosome
17
Map Location
17p13
Summary
This gene encodes a member of a family of membrane-associated phosphatidylinositol transfer domain-containing proteins. The calcium-binding protein has phosphatidylinositol (PI) transfer activity and interacts with the protein tyrosine kinase PTK2B (also known as PYK2). The protein is homologous to a Drosophila protein that is implicated in the visual transduction pathway in flies. Mutations in this gene result in autosomal dominant cone dystrophy. Multiple transcript variants encoding different isoforms have been found for this gene.[provided by RefSeq, Sep 2009]
Orthologs
Proteins
| membrane-associated phosphatidylinositol transfer protein 3 isoform 1 | |
|---|---|
| Refseq ID | NP_112497 |
| Protein GI | 190358515 |
| UniProt ID | Q9BZ71 |
| mRNA ID | NM_031220 |
| Length | 974 |
| RefSeq Status | REVIEWED |
| MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDAREEMAEGKNAILIGMSQWNSNDLVEQIETMGKLDEHQGEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGCPQRSCKTHVLLLVLHGGNILDTGAGDPSCKAADIHTFSSVLEKVTRAHFPAALGHILIKFVPCPAICSEAFSLVSHLNPYSHDEGCLSSSQDHVPLAALPLLAISSPQYQDAVATVIERANQVYREFLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSAGPSGDSPASSSRKGSISSTQDTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDCEAITQHHAFLSSIHSSVLKDESETPAAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDGFQVRPACSQVYSFFHCADPSASRLEPLLEPKFHLVPPVSVPRYQRFPLGDGQSLLLADALHTHSPLFLEGSSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHSESSESSDSMAPVGASRITAKWWGSKRIDYALYCPDVLTAFPTVALPHLFHASYWESTDVVAFILRQVMRYESVNIKESARLDPAALSPANPREKWLRKRTQVKLRNVTANHRANDVIAAEDGPQVLVGRFMYGPLDMVALTGEKVDILVMAEPSSGRWVHLDTEITNSSGRITYNVPRPRRLGVGVYPVKMVVRGDQTCAMSYLTVLPRGMECVVFSIDGSFAASVSIMGSDPKVRPGAVDVVRHWQDLGYMILYITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLRNLMQECFIKISAAYGSTKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSRMILRKGSFGLHAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPALSWARGPPKFESVP | |
| membrane-associated phosphatidylinositol transfer protein 3 isoform 2 | |
|---|---|
| Refseq ID | NP_001159438 |
| Protein GI | 260166647 |
| UniProt ID | A1A5C9 |
| mRNA ID | NM_001165966 |
| Length | 938 |
| RefSeq Status | REVIEWED |
| MAKAGRAGGPPPGGGAPWHLRNVLSDSVESSDDEFFDARGEGTAPCTSSILQEKQRELYRVSLRRQRFPAQGSIEIHEDSEEGCPQRSCKTHVLLLVLHGGNILDTGAGDPSCKAADIHTFSSVLEKVTRAHFPAALGHILIKFVPCPAICSEAFSLVSHLNPYSHDEGCLSSSQDHVPLAALPLLAISSPQYQDAVATVIERANQVYREFLKSSDGIGFSGQVCLIGDCVGGLLAFDAICYSAGPSGDSPASSSRKGSISSTQDTPVAVEEDCSLASSKRLSKSNIDISSGLEDEEPKRPLPRKQSDSSTYDCEAITQHHAFLSSIHSSVLKDESETPAAGGPQLPEVSLGRFDFDVSDFFLFGSPLGLVLAMRRTVLPGLDGFQVRPACSQVYSFFHCADPSASRLEPLLEPKFHLVPPVSVPRYQRFPLGDGQSLLLADALHTHSPLFLEGSSRDSPPLLDAPASPPQASRFQRPGRRMSEGSSHSESSESSDSMAPVGASRITAKWWGSKRIDYALYCPDVLTAFPTVALPHLFHASYWESTDVVAFILRQVMRYESVNIKESARLDPAALSPANPREKWLRKRTQVKLRNVTANHRANDVIAAEDGPQVLVGRFMYGPLDMVALTGEKVDILVMAEPSSGRWVHLDTEITNSSGRITYNVPRPRRLGVGVYPVKMVVRGDQTCAMSYLTVLPRGMECVVFSIDGSFAASVSIMGSDPKVRPGAVDVVRHWQDLGYMILYITGRPDMQKQRVVSWLSQHNFPQGMIFFSDGLVHDPLRQKAIFLRNLMQECFIKISAAYGSTKDISVYSVLGLPASQIFIVGRPTKKYQTQCQFLSEGYAAHLAALEASHRSRPKKNNSRMILRKGSFGLHAQPEFLRKRNHLRRTMSVQQPDPPAANPKPERAQSQPESDKDHERPLPALSWARGPPKFESVP | |
Gene Information
Gene Ontology (GO Annotations)
| GO ID | Source | Type | Description |
|---|---|---|---|
| GO:0016021 | TAS:UniProtKB | C | integral component of membrane |
| GO:0005622 | IEA:InterPro | C | intracellular |
| GO:0005509 | TAS:UniProtKB | F | calcium ion binding |
| GO:0008289 | IEA:UniProtKB-KW | F | lipid binding |
| GO:0008526 | TAS:UniProtKB | F | phosphatidylinositol transporter activity |
| GO:0030971 | TAS:UniProtKB | F | receptor tyrosine kinase binding |
| GO:0046488 | TAS:UniProtKB | P | phosphatidylinositol metabolic process |
| GO:0015914 | TAS:GOC | P | phospholipid transport |
Domain Information
UniProt Annotations
Entry Information
Comments
| Comment Type | Description |
|---|---|
| Alternative Products | Event=Alternative splicing; Named isoforms=3; Name=1; IsoId=Q9BZ71-1; Sequence=Displayed; Name=2; IsoId=Q9BZ71-2; Sequence=VSP_017965; Note=No experimental confirmation available. May be due to an intron retention.; Name=3; IsoId=Q9BZ71-3; Sequence=VSP_046060; Note=No experimental confirmation available.; |
| Disease | Cone-rod dystrophy 5 (CORD5) [MIM |
| Function | Catalyzes the transfer of phosphatidylinositol and phosphatidylcholine between membranes (in vitro) (By similarity). Binds calcium ions. |
| Interaction | P55774:CCL18; NbExp=4; IntAct=EBI-2815766, EBI-711240; |
| Sequence Caution | Sequence=BAD92367.1; Type=Erroneous initiation; Evidence= ; |
| Similarity | Belongs to the PtdIns transfer protein family. PI transfer class IIA subfamily. |
| Similarity | Contains 1 DDHD domain. {ECO |
| Subcellular Location | Endomembrane system ; Peripheral membrane protein . |
| Subunit | Interacts with PTK2B via its C-terminus. |
| Tissue Specificity | Detected in brain and spleen, and at low levels in ovary. |
Identical and Related Proteins
Unique RefSeq proteins for LMP001245 (as displayed in Record Overview)
| Protein GI | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| 190358515 | RefSeq | NP_112497 | 974 | membrane-associated phosphatidylinositol transfer protein 3 isoform 1 |
| 260166647 | RefSeq | NP_001159438 | 938 | membrane-associated phosphatidylinositol transfer protein 3 isoform 2 |
Identical Sequences to LMP001245 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:190358515 | GenBank | AAI28585.1 | 974 | PITPNM family member 3 [Homo sapiens] |
| GI:190358515 | SwissProt | Q9BZ71.2 | 974 | RecName: Full=Membrane-associated phosphatidylinositol transfer protein 3; AltName: Full=Phosphatidylinositol transfer protein, membrane-associated 3; Short=PITPnm 3; AltName: Full=Pyk2 N-terminal domain-interacting receptor 1; Short=NIR-1 [Homo sapiens] |
Related Sequences to LMP001245 proteins
| Reference | Database | Accession | Length | Protein Name |
|---|---|---|---|---|
| GI:190358515 | GenBank | AAK01446.1 | 974 | NIR1 [Homo sapiens] |
| GI:190358515 | GenBank | AAQ41227.1 | 974 | Sequence 4 from patent US 6576442 |
| GI:190358515 | GenBank | AAI28584.1 | 974 | PITPNM family member 3 [Homo sapiens] |
| GI:190358515 | GenBank | EAW90304.1 | 974 | PITPNM family member 3, isoform CRA_a [Homo sapiens] |
| GI:260166647 | GenBank | JAB14123.1 | 973 | membrane-associated phosphatidylinositol transfer protein 3 isoform 1 [Callithrix jacchus] |
| GI:260166647 | GenBank | JAB33544.1 | 973 | membrane-associated phosphatidylinositol transfer protein 3 isoform 1 [Callithrix jacchus] |
| GI:190358515 | GenBank | AIC57243.1 | 974 | PITPNM3, partial [synthetic construct] |
| GI:260166647 | RefSeq | XP_004058499.1 | 1164 | PREDICTED: membrane-associated phosphatidylinositol transfer protein 3 [Gorilla gorilla gorilla] |
| GI:260166647 | RefSeq | XP_008008232.1 | 974 | PREDICTED: membrane-associated phosphatidylinositol transfer protein 3 [Chlorocebus sabaeus] |
| GI:190358515 | RefSeq | XP_008960862.1 | 970 | PREDICTED: membrane-associated phosphatidylinositol transfer protein 3, partial [Pan paniscus] |
| GI:260166647 | RefSeq | XP_008960862.1 | 970 | PREDICTED: membrane-associated phosphatidylinositol transfer protein 3, partial [Pan paniscus] |
| GI:260166647 | RefSeq | XP_010376202.1 | 1208 | PREDICTED: LOW QUALITY PROTEIN: membrane-associated phosphatidylinositol transfer protein 3 [Rhinopithecus roxellana] |