2.A.1.2.104 MFS carrier of 490 aas and 12 TMSs, MfsD14a or Hiat1 (Hippocampus abundant transcript 1 protein) is a member of the SLC18 family. It is 76% identical to 2.A.1.2.30. Mutant mice (Mus musculus, strain 129S6Sv/Ev) were generated with the Mfsd14a gene disrupted with a LacZ reporter gene. Mutant mice are viable and healthy, but males are sterile due to a 100-fold reduction in the number of spermatozoa in the vas deferens. Male mice have adequate levels of testosterone and show normal copulatory behaviour. The few spermatozoa that are formed show rounded head defects similar to those found in humans with globozoospermia. Spermatogenesis proceeds normally up to the round spermatid stage, but the subsequent structural changes associated with spermiogenesis are severely disrupted with failure of acrosome formation, sperm head condensation and mitochondrial localization to the mid-piece of the sperm. Mfsd14a expression occurs in Sertoli cells, suggesting that MFSD14A may transport a solute from the bloodstream that is required for spermiogenesis (Doran et al. 2016). MFSD14A and MFSD14B are intracellular neuronal membrane-bound proteins,
expressed in the Golgi and ER, and their levels of expression are affected by both
starvation and a high fat diet to varying degrees in the mouse brain (Lekholm et al. 2017). It is associated with milk production in buffalo and sheep
breeds, as well as growth of chickens and goats, and drastically affect s
sperm morphogenesis (Luo et al. 2023). The functional InDel polymorphism (rs1089950828) reflects growth traits in domestic sheep populations (Luo et al. 2023).
|
Accession Number: | Q96MC6 |
Protein Name: | Hippocampus abundant transcript 1 protein |
Length: | 490 |
Molecular Weight: | 53027.00 |
Species: | Homo sapiens (Human) [9606] |
Number of TMSs: | 12 |
Location1 / Topology2 / Orientation3: |
Membrane1 / Multi-pass membrane protein2 |
Substrate |
|
---|
1: MTQGKKKKRA ANRSIMLAKK IIIKDGGTPQ GIGSPSVYHA VIVIFLEFFA WGLLTAPTLV
61: VLHETFPKHT FLMNGLIQGV KGLLSFLSAP LIGALSDVWG RKSFLLLTVF FTCAPIPLMK
121: ISPWWYFAVI SVSGVFAVTF SVVFAYVADI TQEHERSMAY GLVSATFAAS LVTSPAIGAY
181: LGRVYGDSLV VVLATAIALL DICFILVAVP ESLPEKMRPA SWGAPISWEQ ADPFASLKKV
241: GQDSIVLLIC ITVFLSYLPE AGQYSSFFLY LRQIMKFSPE SVAAFIAVLG ILSIIAQTIV
301: LSLLMRSIGN KNTILLGLGF QILQLAWYGF GSEPWMMWAA GAVAAMSSIT FPAVSALVSR
361: TADADQQGVV QGMITGIRGL CNGLGPALYG FIFYIFHVEL KELPITGTDL GTNTSPQHHF
421: EQNSIIPGPP FLFGACSVLL ALLVALFIPE HTNLSLRSSS WRKHCGSHSH PHNTQAPGEA
481: KEPLLQDTNV