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Seq./Align.
Variant
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Pathway
Disease

Detail Data SLC34A1


Basic description
Gene Name SLC34A1
Protein Name Sodium-dependent phosphate transport protein 2A (Sodium-phosphate transport protein 2A) (Na(+)-dependent phosphate cotransporter 2A) (NaPi-3) (Sodium/phosphate cotransporter 2A) (Na(+)/Pi cotransporter 2A) (NaPi-2a) (Solute carrier family 34 member 1)
Family SLC34
Category Transport of inorganic cations/anions and amino acids/oligopeptides
Reaction name -
Reaction -

Network
Structure


[Overview]
Position 1 0 2 0 3 0 4 0 5 0 6 0 7 0 8 0 9 0 1 0 0 1 1 0 1 2 0 1 3 0 1 4 0 1 5 0 1 6 0 1 7 0 1 8 0 1 9 0 2 0 0 2 1 0 2 2 0 2 3 0 2 4 0 2 5 0 2 6 0 2 7 0 2 8 0 2 9 0 3 0 0 3 1 0 3 2 0 3 3 0 3 4 0 3 5 0 3 6 0 3 7 0 3 8 0 3 9 0 4 0 0 4 1 0 4 2 0 4 3 0 4 4 0 4 5 0 4 6 0 4 7 0 4 8 0 4 9 0 5 0 0 5 1 0 5 2 0 5 3 0 5 4 0 5 5 0 5 6 0 5 7 0 5 8 0 5 9 0 6 0 0 6 1 0 6 2 0 6 3 0 AA Pred 
        10         20         30         40         50         60         70         80         90        100        110        120        130        140        150        160        170        180        190        200        210        220        230        240        250        260        270        280        290        300        310        320        330        340        350        360        370        380        390        400        410        420        430        440        450        460        470        480        490        500        510        520        530        540        550        560        570        580        590        600        610        620        630 
MLSYGERLGS PAVSPLPVRG GHVMRGTAFA YVPSPQVLHR IPGTSAYAFP SLGPVALAEH TCPCGEVLER HEPLPAKLAL EEEQKPESRL VPKLRQAGAM LLKVPLMLTF LYLFVCSLDM LSSAFQLAGG KVAGDIFKDN AILSNPVAGL VVGILVTVLV QSSSTSTSII VSMVSSGLLE VSSAIPIIMG SNIGTSVTNT IVALMQAGDR TDFRRAFAGA TVHDCFNWLS VLVLLPLEAA TGYLHHITRL VVASFNIHGG RDAPDLLKII TEPFTKLIIQ LDESVITSIA TGDESLRNHS LIQIWCHPDS LQAPTSMSRA EANSSQTLGN ATMEKCNHIF VDTGLPDLAV GLILLAGSLV LLCTCLILLV KMLNSLLKGQ VAKVIQKVIN TDFPAPFTWV TGYFAMVVGA SMTFVVQSSS VFTSAITPLI GLGVISIERA YPLTLGSNIG TTTTAILAAL ASPREKLSSA FQIALCHFFF NISGILLWYP VPCTRLPIRM AKALGKRTAK YRWFAVLYLL VCFLLLPSLV FGISMAGWQV MVGVGTPFGA LLAFVVLINV LQSRSPGHLP KWLQTWDFLP RWMHSLKPLD HLITRATLCC ARPEPRSPPL PPRVFLEELP PATPSPRLAL PAHHNATRL 
CCCCCCCCCC CCCCCCCCCC CCCCCCCHHC CCCCCCCCCC CCCCHHEEEC CCHHHHHHHC CCCCCCHHHC CCCCCHHHCC CCCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCH HHHHHHHHHC CCCCCHHHHH HHHHHHHHHH CCCHHHHHHH HHHHCCCCCC HHCCHHHHCC CCCCHHHHHH HHHHHHCCCC HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHCCC CCCCHHHHHH HCCCCCHHHH CCHHHHHHHH HCCHHHHCCC CCEEECCCCC CCCCCCCCHH HCCCCCCCCC CCCCCCCCCC CCCCCCHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHC CCCCCCHHCC CHHHHHHHHH HHHHHHCCHH HCHHCCCCCC CCCCCCHHHH HHHHHHCCCH HHHHHHHHHH CCCHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHCHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHHHHHHH HHHHCCCCCC HHHCCCCCCC HHHHHCHHHH HHHHHHHHCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCCC CCCCCCCCC
[Overview] SLC34A1 SLC34A2 SLC34A3 
SLC34A1   MLSYGERLGSPAVSPLPVRGGHVMRGTAFAYVPSPQVLHRI--------PGTSAYAFPSLGPVALAEHT---------CPCGEVLERHEP--LPAKLALEE------EQKPESRLVPKLRQAGAMLLKVPLMLTFLYLFVCSLDMLSSAFQLAGGKVAGDIFKDNAILSNPVAGLVVGILVTVLVQSSSTSTSIIVSMVSSGLLEVSSAIPIIMGSNIGTSVTNTIVALMQAGDRTDFRRAFAGATVHDCFNWLSVLVLLPLEAATGYLHHITRLVVASFNIHGGRDAPDLLKIITEPFTKLIIQLDESVITSIATGDESLRNHSLIQIWCH------------PDSLQAPT-SMSRAEANSSQTLGNAT----MEKCNHIFVDTGLPDLAVGLILLAGSLVLLCTCLILLVKMLNSLLKGQVAKVIQKVINTDFPAPFTWVTGYFAMVVGASMTFVVQSSSVFTSAITPLIGLGVISIERAYPLTLGSNIGTTTTAILAALASPREKLSSAFQIALCHFFFNISGILLWYPVPCTRLPIRMAKALGKRTAKYRWFAVLYLLVCFLLLPSLVFGISMAGWQVMVGVGTPFGALLAFVVLINVLQSRSPGHLPKWLQTWDFLPRWMHSLKPLDHLITRAT-------LCCARPEPRSPPL---PPRVF--------LEE------LPPATPS-------PRLA---LPAHHNATRL---
SLC34A2   MAPWPE-LGDAQPNP-----DKYLEGAAGQQPTAPDKSKETNKTDNTEAPVTKIELLPSYSTATLID---------------EPTEVDDPWNLP---TLQDSGIKWSERDTKGKILCFFQGIGRLI----LLLGFLYFFVCSLDILSSAFQLVGGKMAGQFFSNSSIMSNPLLGLVIGVLVTVLVQSSSTSTSIVVSMVSSSLLTVRAAIPIIMGANIGTSITNTIVALMQVGDRSEFRRAFAGATVHDFFNWLSVLVLLPVEVATHYLEIITQLIVESFHFKNGEDAPDLLKVITKPFTKLIVQLDKKVISQIAMNDEKAKNKSLVKIWCKTFTNKTQINVTVPSTANCTSPSLCWTDGIQNWTMKNVTYKENIAKCQHIFVNFHLPDLAVGTILLILSLLVLCGCLIMIVKILGSVLKGQVATVIKKTINTDFPFPFAWLTGYLAILVGAGMTFIVQSSSVFTSALTPLIGIGVITIERAYPLTLGSNIGTTTTAILAALASPGNALRSSLQIALCHFFFNISGILLWYPIPFTRLPIRMAKGLGNISAKYRWFAVFYLIIFFFLIPLTVFGLSLAGWRVLVGVGVPVVFIIILVLCLRLLQSRCPRVLPKKLQNWNFLPLWMRSLKPWDAVVSKFTGCFQMRCCCCCRVCCRACCLLCGCPKCCRCSKCCEDLEEAQEGQDVPVKAPETFDNITISREAQGEVPASDSKTECTAL
SLC34A3   -----------MPSSL---------------------------------PGSQV-PHPTLDAVDLVEKTLRNEGTSSSAPVLEEGDT-DPWTLP---QLKDTSQPWKELRVAGRL---RRVAGSVL-KACGLLGSLYFFICSLDVLSSAFQLLGSKVAGDIFKDNVVLSNPVAGLVIGVLVTALVQSSSTSSSIVVSMVAAKLLTVRVSVPIIMGVNVGTSITSTLVSMAQSGDRDEFQRAFSGSAVHGIFNWLTVLVLLPLESATALLERLSELALGAASLTPRAQAPDILKVLTKPLTHLIVQLDSDMIMSSATGN--ATNSSLIKHWCGTTGQ--------PTQENSSC------GAFGPCTEKNSTAPADRLPCRHLFAGTELTDLAVGCILLAGSLLVLCGCLVLIVKLLNSVLRGRVAQVVRTVINADFPFPLGWLGGYLAVLAGAGLTFALQSSSVFTAAVVPLMGVGVISLDRAYPLLLGSNIGTTTTALLAALASPADRMLSALQVALIHFFFNLAGILLWYLVPALRLPIPLARHFGVVTARYRWVAGVYLLLGFLLLPLAAFGLSLAGGMVLAAVGGPLVGLVLLVILVTVLQRRRPAWLPVRLRSWAWLPVWLHSLEPWDRLVTR---------CCPCNV--------CSPPKAT--------TKEA-----YCYENPE--------------ILASQQL------

Variant
check gene name residue number Reference Amino Acid / Variant Amino Acid minor allele frequency rs number
-- SLC34A1 25 R/Q 0.000194313 rs112528230
-- SLC34A1 67 V/I 0.000308444 rs766325552
-- SLC34A1 75 P/S 0.0051416 rs61753440
-- SLC34A1 95 R/H 0.00251594 rs145798898
-- SLC34A1 95 R/C 0.00025078 rs570530283
-- SLC34A1 133 A/V 0.00372259 rs148976897
-- SLC34A1 171 V/I 0.000143292 rs570463028
-- SLC34A1 209 D/A 0.000104066 rs201109695
-- SLC34A1 218 A/T 0.000390781 rs569024586
-- SLC34A1 261 R/H 0.000429659 rs144306414
-- SLC34A1 338 H/L 0.000128993 rs577163868
-- SLC34A1 450 G/S 0.000282909 rs34044544
-- SLC34A1 495 R/C 0.000203242 rs199565633
-- SLC34A1 555 V/M 0.000135314 rs201515582
-- SLC34A1 568 H/Y 0.022023 rs34225933
-- SLC34A1 609 P/L 0.000134281 rs147711480
-- SLC34A1 627 R/H 0.000321041 rs373459733

Phylogenetic tree

Pathway
Priority Gene Name Reactome (Gene) Reactome (Pathway)
main SLC34A1 SLC34A1 [plasma membrane] Type II Na+/Pi cotransporters
SLC34A1 SLC34A1 [plasma membrane] Surfactant metabolism

Disease
Gene Name Reactome (Gene) Reactome (Pathway)
SLC34A1 SLC34A1 V147M [plasma membrane] Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)
SLC34A1 SLC34A1 A48F [plasma membrane] Defective SLC34A1 causes hypophosphatemic nephrolithiasis/osteoporosis 1 (NPHLOP1)